Sugi Variant

Sugi Variant/EMC1

EMC1 — 1361 ClinVar variants

All ClinVar germline EMC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 674 flagged for review →

50 Pathogenic · 10 Pathogenic/Likely pathogenic · 38 Likely pathogenic · 22 Conflicting · 28 Benign · 8 Benign/Likely benign · 456 Likely benign · 749 Uncertain significance

Full EMC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 674

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 vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 11

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

Predictors lean, ClinVar uncertain 390

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 390

Predictors split 270

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 270

All EMC1 variants

Pathogenic 50

Pathogenic/Likely pathogenic 10

  • c.2675_2676del Multiple submitters cerebellar atrophy, visual impairment, and psychomotor retardation;
  • p.Arg660Ter Multiple submitters cerebellar atrophy, visual impairment, and psychomotor retardation;
  • p.Asn739fs Multiple submitters cerebellar atrophy, visual impairment, and psychomotor retardation;
  • p.Leu266Ter Multiple submitters cerebellar atrophy, visual impairment, and psychomotor retardation;
  • p.Met1Arg Multiple submitters cerebellar atrophy, visual impairment, and psychomotor retardation;
  • p.Pro874fs Multiple submitters congenital anomaly of kidney and urinary tract
  • p.Thr82Met Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr142Ter Multiple submitters cerebellar atrophy, visual impairment, and psychomotor retardation;
  • p.Tyr378Ter Multiple submitters Global developmental delay
  • p.Tyr602Ter Multiple submitters cerebellar atrophy, visual impairment, and psychomotor retardation;

Likely pathogenic 38

Conflicting classifications of pathogenicity 22

  • c.1632+2T>C Single submitter cerebellar atrophy, visual impairment, and psychomotor retardation;
  • c.1783-8C>A Single submitter Inborn genetic diseases
  • c.2377-2A>G Single submitter cerebellar atrophy, visual impairment, and psychomotor retardation;
  • c.95+11G>A Single submitter cerebellar atrophy, visual impairment, and psychomotor retardation;
  • p.Ala144Thr Single submitter cerebellar atrophy, visual impairment, and psychomotor retardation; ⚠
  • p.Ala750Thr Single submitter cerebellar atrophy, visual impairment, and psychomotor retardation; ⚠
  • p.Ala750Val Single submitter Inborn genetic diseases ⚠
  • p.Arg401Trp Single submitter ⚠
  • p.Arg754= Single submitter
  • p.Arg859Ter Single submitter
  • p.Asn370Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp265Asn Single submitter inherited retinal dystrophy ⚠
  • p.Asp285= Single submitter inherited retinal dystrophy
  • p.Gln304His Single submitter Inborn genetic diseases ⚠
  • p.Gly767Val Single submitter cerebellar atrophy, visual impairment, and psychomotor retardation; ⚠
  • p.His905fs Single submitter cerebellar atrophy, visual impairment, and psychomotor retardation;
  • p.Lys52Arg Single submitter Inborn genetic diseases ⚠
  • p.Phe670Leu Single submitter inherited retinal dystrophy ⚠
  • p.Phe953Ser Single submitter Cerebellar atrophy ⚠
  • p.Pro584Arg Single submitter cerebellar atrophy, visual impairment, and psychomotor retardation; ⚠
  • p.Val185= Single submitter inherited retinal dystrophy
  • p.Val807Ile Single submitter Inborn genetic diseases ⚠

Benign 28

Benign/Likely benign 8

  • c.787-13T>C Multiple submitters cerebellar atrophy, visual impairment, and psychomotor retardation;
  • p.Ala286= Multiple submitters
  • p.Arg685Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Leu295Ser Multiple submitters inherited retinal dystrophy ⚠
  • p.Pro240Leu Multiple submitters
  • p.Ser596Leu Multiple submitters inherited retinal dystrophy ⚠
  • p.Thr390Met Multiple submitters inherited retinal dystrophy ⚠
  • p.Tyr962= Multiple submitters cerebellar atrophy, visual impairment, and psychomotor retardation;

Likely benign 456

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

Uncertain significance 749

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