Sugi Variant

Sugi Variant/MED17

MED17 — 629 ClinVar variants

All ClinVar germline MED17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 150 flagged for review →

31 Pathogenic · 14 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 12 Conflicting · 41 Benign · 8 Benign/Likely benign · 320 Likely benign · 170 Uncertain significance

Full MED17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 150

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 8

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 106

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 36

The independent predictors disagree with each other — read with care.

All MED17 variants

Pathogenic 31

Pathogenic/Likely pathogenic 14

  • p.Ala435fs Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Arg189Ter Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Arg197Ter Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Arg279Ter Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Arg454Ter Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Gln158Ter Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Gln180Ter Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Gln482Ter Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Gln528Ter Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Glu306Ter Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Gly253Arg Multiple submitters MED17-related disorders
  • p.His219fs Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Leu371Pro Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Leu478_Ile479insMetPheMetAsnLeuValTer Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Likely pathogenic 33

  • c.1013-1G>A Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.1467-1G>C Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.1585-1G>T Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Ser37Ter Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Trp291Ter Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.1013-1G>C Single submitter
  • c.1143+1G>A Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.1144-2A>G Single submitter
  • c.1328+1G>A Single submitter
  • c.1467-1G>T Single submitter
  • c.1584+1G>C Single submitter
  • c.1584+2T>A Single submitter
  • c.251-55_255del Single submitter
  • c.417+1G>C Single submitter
  • c.418-1_418del Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.418-2del Single submitter
  • c.638-2A>C Single submitter
  • c.774_774+1delinsTT Single submitter
  • c.774+1G>A Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.775-1G>C Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.859+1G>T Single submitter
  • p.Arg313fs Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Gln517fs Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Gln538Ter Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Gly556Ter Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.His463fs Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Leu160Ter Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Leu478Ter Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Lys202Ter Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Met544fs Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Phe308fs Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Ser254fs Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Thr107fs Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Conflicting classifications of pathogenicity 12

  • p.Ala358Thr Single submitter ⚠
  • p.Arg191Trp Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Arg583His Single submitter microcephaly ⚠
  • p.Gln533Ter Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Gly483= Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.His506Tyr Single submitter Inborn genetic diseases ⚠
  • p.Leu34fs Single submitter Inborn genetic diseases
  • p.Lys623Arg Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Met643Val Single submitter Inborn genetic diseases ⚠
  • p.Phe357Leu Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Ser254Cys Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Val130= Single submitter

Benign 41

Benign/Likely benign 8

  • c.1329-12T>C Multiple submitters
  • c.251-8C>T Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.775-12G>A Multiple submitters
  • c.775-14T>C Multiple submitters
  • p.Gln494= Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Glu500= Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.His535= Multiple submitters
  • p.Pro337= Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Likely benign 320

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 170

  • p.Ala164Thr Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Arg42Cys Multiple submitters Inborn genetic diseases
  • p.Arg454Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg583Cys Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Arg598Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn101Ser Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Asn300Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ile236Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Leu243Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Met109Leu Multiple submitters infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Pro337Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser254Phe Multiple submitters ⚠
  • p.Ser408Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser408Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Ser424Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Thr513Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr113His Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr256Cys Multiple submitters Inborn genetic diseases
  • c.1013-4A>G Single submitter
  • c.1144-3T>A Single submitter
  • c.774+3A>G Single submitter
  • p.Ala105Val Single submitter Inborn genetic diseases ⚠
  • p.Ala154Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala156Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala212Val Single submitter
  • p.Ala265Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala297Gly Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Ala398Thr Single submitter ⚠
  • p.Ala41Thr Single submitter ⚠
  • p.Ala435Thr Single submitter Inborn genetic diseases
  • p.Ala445Val Single submitter Inborn genetic diseases ⚠
  • p.Ala572Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala579Val Single submitter Inborn genetic diseases ⚠
  • p.Ala645Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg313Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg503Ter Single submitter
  • p.Arg619His Single submitter ⚠
  • p.Arg633Gln Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Asn227His Single submitter ⚠
  • p.Asn374Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn416Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp229Asn Single submitter ⚠
  • p.Asp239Gly Single submitter ⚠
  • p.Asp244Asn Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Asp250Ala Single submitter ⚠
  • p.Asp48His Single submitter ⚠
  • p.Gln158Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln262Arg Single submitter ⚠
  • p.Gln330Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln362Leu Single submitter Inborn genetic diseases ⚠
  • p.Gln422Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln522Ter Single submitter
  • p.Gln595His Single submitter Inborn genetic diseases ⚠
  • p.Glu16Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu381Asp Single submitter ⚠
  • p.Glu631Lys Single submitter ⚠
  • p.Gly253Ala Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Gly269Cys Single submitter Inborn genetic diseases
  • p.Gly269Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly272_Leu276del Single submitter
  • p.Gly483Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly498Glu Single submitter ⚠
  • p.Gly84Glu Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Gly84Val Single submitter Inborn genetic diseases ⚠
  • p.His347Pro Single submitter Inborn genetic diseases ⚠
  • p.His383Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile332Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile379Ser Single submitter Inborn genetic diseases ⚠
  • p.Ile47Met Single submitter ⚠
  • p.Ile569Thr Single submitter Inborn genetic diseases ⚠
  • p.Leu127Phe Single submitter ⚠
  • p.Leu135Phe Single submitter ⚠
  • p.Leu230Val Single submitter Inborn genetic diseases ⚠
  • p.Leu276Pro Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Leu281Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu339Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu549Pro Single submitter ⚠
  • p.Leu618Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu642His Single submitter Inborn genetic diseases ⚠
  • p.Lys433Ile Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Lys436Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys591Glu Single submitter ⚠
  • p.Lys629Arg Single submitter Inborn genetic diseases ⚠
  • p.Met391Ile Single submitter Inborn genetic diseases ⚠
  • p.Met391Val Single submitter Inborn genetic diseases ⚠
  • p.Met593Leu Single submitter ⚠
  • p.Phe124Leu Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Pro242Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro266Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro282His Single submitter Inborn genetic diseases ⚠
  • p.Pro33Leu Single submitter
  • p.Pro364Ala Single submitter ⚠
  • p.Pro364Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro399Thr Single submitter ⚠
  • p.Pro458His Single submitter Inborn genetic diseases ⚠
  • p.Pro559Ser Single submitter ⚠
  • p.Pro586Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser320Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser342Cys Single submitter ⚠
  • p.Ser342Tyr Single submitter ⚠
  • p.Ser35Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser35Phe Single submitter ⚠
  • p.Ser35Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser389Cys Single submitter ⚠
  • p.Ser473Phe Single submitter ⚠
  • p.Ser527Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser552Gly Single submitter ⚠
  • p.Ser562Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser588Thr Single submitter ⚠
  • p.Thr143Met Single submitter Inborn genetic diseases ⚠
  • p.Thr228Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr570Met Single submitter ⚠
  • p.Trp291Arg Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Trp291Gly Single submitter infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Tyr113Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr369His Single submitter Inborn genetic diseases ⚠
  • p.Tyr637Phe Single submitter Inborn genetic diseases ⚠
  • p.Val259Ala Single submitter ⚠
  • p.Val326_Ile331del Single submitter
  • p.Val327Met Single submitter Inborn genetic diseases ⚠
  • p.Val555Met Single submitter Inborn genetic diseases ⚠
  • p.Val86Ile Single submitter ⚠
  • p.Val98Met Single submitter Inborn genetic diseases ⚠
  • c.1744+3del No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.417+3A>C No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.417+6del No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.775-3T>C No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.859+5G>A No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • c.860-6T>G No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Ala41Val No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Arg189Gln No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Arg279Gly No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Asn177Lys No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Asp121Gly No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Asp133Tyr No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Gln246Arg No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Gln482= No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Gln89His No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Gly54Ser No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Gly576= No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.His219Leu No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.His324Tyr No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.His367Asp No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.His617Arg No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Ile236Thr No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Ile460Met No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Ile580Val No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Leu167Pro No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Leu196Arg No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Leu302Phe No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Leu428= No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Leu478= No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Leu478Val No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Leu650Gln No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Lys403Gln No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Met109Ile No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Met125Val No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Met36Val No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Met529Leu No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Pro248Ala No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Pro586Ser No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Pro605Ser No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Ser104Asn No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Ser152Thr No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Ser354Pro No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Ser474= No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
  • p.Ser91Pro No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Thr172Ser No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Val370Asp No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠
  • p.Val636Phe No assertion criteria infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ⚠