Sugi Variant

Sugi Variant/TECPR2

TECPR2 — 1422 ClinVar variants

All ClinVar germline TECPR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 335 flagged for review →

52 Pathogenic · 17 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 22 Conflicting · 62 Benign · 19 Benign/Likely benign · 826 Likely benign · 375 Uncertain significance

Full TECPR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 335

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 9

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

Predictors lean, ClinVar uncertain 283

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 283

Predictors split 43

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

All TECPR2 variants

Pathogenic 52

  • p.Gln852Ter Multiple submitters hereditary spastic paraplegia 49
  • p.Leu1139fs Multiple submitters hereditary spastic paraplegia 49
  • p.Trp1024Ter Multiple submitters hereditary spastic paraplegia 49
  • p.Ala949Glu Single submitter hereditary spastic paraplegia 49
  • p.Arg443fs Single submitter hereditary spastic paraplegia 49
  • p.Asp593fs Single submitter hereditary spastic paraplegia 49
  • p.Asp619fs Single submitter hereditary spastic paraplegia 49
  • p.Cys1315fs Single submitter hereditary spastic paraplegia 49
  • p.Cys1315Ter Single submitter hereditary spastic paraplegia 49
  • p.Gln1036Ter Single submitter hereditary spastic paraplegia 49
  • p.Gln1154Ter Single submitter hereditary spastic paraplegia 49
  • p.Gln1157fs Single submitter hereditary spastic paraplegia 49
  • p.Gln1316Ter Single submitter hereditary spastic paraplegia 49
  • p.Gln160= Single submitter hereditary spastic paraplegia 49
  • p.Gln317Ter Single submitter hereditary spastic paraplegia 49
  • p.Gln454Ter Single submitter hereditary spastic paraplegia 49
  • p.Gln612fs Single submitter hereditary spastic paraplegia 49
  • p.Gln742Ter Single submitter hereditary spastic paraplegia 49
  • p.Glu12Ter Single submitter hereditary spastic paraplegia 49
  • p.Glu491Ter Single submitter hereditary spastic paraplegia 49
  • p.Glu710fs Single submitter hereditary spastic paraplegia 49
  • p.Glu867Ter Single submitter hereditary spastic paraplegia 49
  • p.Gly792fs Single submitter hereditary spastic paraplegia 49
  • p.His1111fs Single submitter hereditary spastic paraplegia 49
  • p.Ile175fs Single submitter Inborn genetic diseases
  • p.Leu1210fs Single submitter hereditary spastic paraplegia 49
  • p.Leu1246fs Single submitter hereditary spastic paraplegia 49
  • p.Leu512fs Single submitter hereditary spastic paraplegia 49
  • p.Leu64fs Single submitter hereditary spastic paraplegia 49
  • p.Lys884fs Single submitter hereditary spastic paraplegia 49
  • p.Met398fs Single submitter hereditary spastic paraplegia 49
  • p.Ser293fs Single submitter hereditary spastic paraplegia 49
  • p.Ser520delinsValSerTrpAlaValAlaTrpIleSerTer Single submitter hereditary spastic paraplegia 49
  • p.Ser523fs Single submitter hereditary spastic paraplegia 49
  • p.Thr1133fs Single submitter hereditary spastic paraplegia 49
  • p.Thr314fs Single submitter hereditary spastic paraplegia 49
  • p.Thr361_Val362insTer Single submitter hereditary spastic paraplegia 49
  • p.Thr387fs Single submitter hereditary spastic paraplegia 49
  • p.Thr638fs Single submitter hereditary spastic paraplegia 49
  • p.Trp1109Ter Single submitter hereditary spastic paraplegia 49
  • p.Trp1229Ter Single submitter hereditary spastic paraplegia 49
  • p.Trp1255fs Single submitter hereditary spastic paraplegia 49
  • p.Trp1306Ter Single submitter hereditary spastic paraplegia 49
  • p.Trp243Ter Single submitter hereditary spastic paraplegia 49
  • p.Trp844Ter Single submitter hereditary spastic paraplegia 49
  • p.Trp972Ter Single submitter hereditary spastic paraplegia 49
  • p.Trp997fs Single submitter hereditary spastic paraplegia 49
  • p.Tyr17Ter Single submitter hereditary spastic paraplegia 49
  • p.Val1083fs Single submitter hereditary spastic paraplegia 49
  • p.Val81fs Single submitter
  • p.Val986fs Single submitter hereditary spastic paraplegia 49
  • p.Val1302fs No assertion criteria autism

Pathogenic/Likely pathogenic 17

  • c.222delG Multiple submitters hereditary spastic paraplegia 49
  • p.Asn1277fs Multiple submitters hereditary spastic paraplegia 49
  • p.Asn944fs Multiple submitters hereditary spastic paraplegia 49
  • p.Asp259fs Multiple submitters hereditary spastic paraplegia 49
  • p.Gln1178fs Multiple submitters hereditary spastic paraplegia 49
  • p.Gln1189Ter Multiple submitters hereditary spastic paraplegia 49
  • p.Gln1263fs Multiple submitters hereditary spastic paraplegia 49
  • p.Gln191Ter Multiple submitters hereditary spastic paraplegia 49
  • p.Glu12fs Multiple submitters hereditary spastic paraplegia 49
  • p.Gly584fs Multiple submitters hereditary spastic paraplegia 49
  • p.Leu225_Cys226insTer Multiple submitters hereditary spastic paraplegia 49
  • p.Leu440fs Multiple submitters hereditary spastic paraplegia 49
  • p.Lys343fs Multiple submitters hereditary spastic paraplegia 49
  • p.Thr649fs Multiple submitters hereditary spastic paraplegia 49
  • p.Thr9fs Multiple submitters hereditary spastic paraplegia 49
  • p.Trp1288Ter Multiple submitters hereditary spastic paraplegia 49
  • p.Trp698Ter Multiple submitters hereditary spastic paraplegia 49

Likely pathogenic 49

  • c.1084+2T>C Multiple submitters hereditary spastic paraplegia 49
  • c.1418-2A>G Multiple submitters hereditary spastic paraplegia 49
  • c.2753-1G>A Multiple submitters hereditary spastic paraplegia 49
  • c.1005_1084+133del Single submitter hereditary spastic paraplegia 49
  • c.218_219+15del Single submitter hereditary spastic paraplegia 49
  • c.220-2A>G Single submitter hereditary spastic paraplegia 49
  • c.220-2A>T Single submitter hereditary spastic paraplegia 49
  • c.2578+1G>A Single submitter hereditary spastic paraplegia 49
  • c.2578+2T>C Single submitter hereditary spastic paraplegia 49
  • c.3075+1G>A Single submitter hereditary spastic paraplegia 49
  • c.3075+2T>C Single submitter hereditary spastic paraplegia 49
  • c.3076-1G>T Single submitter hereditary spastic paraplegia 49
  • c.348+1G>A Single submitter hereditary spastic paraplegia 49
  • c.3641-2A>G Single submitter hereditary spastic paraplegia 49
  • c.3790-2A>C Single submitter hereditary spastic paraplegia 49
  • c.951+1G>C Single submitter hereditary spastic paraplegia 49
  • c.951+2T>G Single submitter hereditary spastic paraplegia 49
  • p.Ala386fs Single submitter hereditary spastic paraplegia 49
  • p.Asn44fs Single submitter hereditary spastic paraplegia 49
  • p.Asp328fs Single submitter hereditary spastic paraplegia 49
  • p.Asp495fs Single submitter hereditary spastic paraplegia 49
  • p.Cys334Ter Single submitter hereditary spastic paraplegia 49
  • p.Gln1017fs Single submitter hereditary spastic paraplegia 49
  • p.Gln1157Ter Single submitter hereditary spastic paraplegia 49
  • p.Gln177fs Single submitter hereditary spastic paraplegia 49
  • p.Gln177Ter Single submitter hereditary spastic paraplegia 49
  • p.Gln209fs Single submitter hereditary spastic paraplegia 49
  • p.Gln798Ter Single submitter hereditary spastic paraplegia 49
  • p.Gln971_Trp972insTer Single submitter hereditary spastic paraplegia 49
  • p.Glu1168Ter Single submitter hereditary spastic paraplegia 49
  • p.Glu641fs Single submitter hereditary spastic paraplegia 49
  • p.Glu671fs Single submitter hereditary spastic paraplegia 49
  • p.Gly99fs Single submitter hereditary spastic paraplegia 49
  • p.His376fs Single submitter hereditary spastic paraplegia 49
  • p.Leu1319fs Single submitter
  • p.Leu427fs Single submitter hereditary spastic paraplegia 49
  • p.Lys466fs Single submitter hereditary spastic paraplegia 49
  • p.Pro425fs Single submitter hereditary spastic paraplegia 49
  • p.Pro665fs Single submitter hereditary spastic paraplegia 49
  • p.Ser109Ter Single submitter hereditary spastic paraplegia 49
  • p.Thr189fs Single submitter
  • p.Thr232fs Single submitter hereditary spastic paraplegia 49
  • p.Thr917fs Single submitter hereditary spastic paraplegia 49
  • p.Trp1205Ter Single submitter hereditary spastic paraplegia 49
  • p.Trp1368Ter Single submitter
  • p.Trp887Ter Single submitter hereditary spastic paraplegia 49
  • p.Val1088fs Single submitter hereditary spastic paraplegia 49
  • c.3789+1G>C No assertion criteria hereditary spastic paraplegia 49
  • p.Trp304Ter No assertion criteria hereditary spastic paraplegia 49

Conflicting classifications of pathogenicity 22

  • c.2394+3A>G Single submitter hereditary spastic paraplegia 49
  • p.Ala1345= Single submitter hereditary spastic paraplegia 49
  • p.Ala1345Thr Single submitter hereditary spastic paraplegia 49 ⚠
  • p.Asn1277= Single submitter hereditary spastic paraplegia 49
  • p.Asn548Ser Single submitter Inborn genetic diseases ⚠
  • p.Glu491Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu661Lys Single submitter hereditary spastic paraplegia 49 ⚠
  • p.Gly419Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly536Arg Single submitter hereditary spastic paraplegia 49 ⚠
  • p.Met556Val Single submitter hereditary spastic paraplegia 49 ⚠
  • p.Pro1372= Single submitter hereditary spastic paraplegia
  • p.Ser1355= Single submitter hereditary spastic paraplegia 49
  • p.Ser202= Single submitter hereditary spastic paraplegia
  • p.Ser236= Single submitter hereditary spastic paraplegia
  • p.Ser401= Single submitter hereditary spastic paraplegia 49
  • p.Ser490= Single submitter hereditary spastic paraplegia
  • p.Ser978= Single submitter Inborn genetic diseases
  • p.Thr1383= Single submitter hereditary spastic paraplegia
  • p.Thr208Ile Single submitter hereditary spastic paraplegia 49 ⚠
  • p.Thr568= Single submitter hereditary spastic paraplegia 49
  • p.Val375= Single submitter hereditary spastic paraplegia
  • p.Val516Met Single submitter Inborn genetic diseases ⚠

Benign 62

Benign/Likely benign 19

  • c.3075+18C>T Multiple submitters hereditary spastic paraplegia 49
  • c.3790-11C>T Multiple submitters hereditary spastic paraplegia 49
  • c.3790-18G>C Multiple submitters hereditary spastic paraplegia 49
  • c.4082-16G>A Multiple submitters hereditary spastic paraplegia 49
  • c.952-5G>A Multiple submitters hereditary spastic paraplegia 49
  • c.*1716G>C Multiple submitters hereditary spastic paraplegia
  • p.Ala1363= Multiple submitters hereditary spastic paraplegia 49
  • p.Ala380= Multiple submitters hereditary spastic paraplegia 49
  • p.Ala733= Multiple submitters hereditary spastic paraplegia 49
  • p.Arg980Thr Multiple submitters hereditary spastic paraplegia
  • p.Asn535= Multiple submitters hereditary spastic paraplegia 49
  • p.His760= Multiple submitters hereditary spastic paraplegia 49
  • p.Ile683Val Multiple submitters hereditary spastic paraplegia 49
  • p.Leu597Phe Multiple submitters hereditary spastic paraplegia 49
  • p.Leu684Val Multiple submitters hereditary spastic paraplegia 49
  • p.Lys1094= Multiple submitters hereditary spastic paraplegia 49
  • p.Ser1092Leu Multiple submitters hereditary spastic paraplegia
  • p.Ser420= Multiple submitters hereditary spastic paraplegia 49
  • p.Val817Met Multiple submitters hereditary spastic paraplegia 49

Likely benign 826

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

Uncertain significance 375

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