ADH1C — 54 ClinVar variants
All ClinVar germline ADH1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Conflicting · 4 Benign · 2 Benign/Likely benign · 10 Likely benign · 37 Uncertain significance
Full ADH1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ADH1C p.His139Tyr Uncertain significance Multiple submitters
- ADH1C p.Asn243Lys Uncertain significance Single submitter
- ADH1C p.Gly118Ala Uncertain significance Single submitter
- ADH1C p.Gly127Val Uncertain significance Single submitter
- ADH1C p.Gly205Asp Uncertain significance Single submitter
- ADH1C p.Gly211Val Uncertain significance Single submitter
- ADH1C p.Gly72Ser Uncertain significance Single submitter
-
ADH1C p.Ile356Val
Uncertain significance
Single submitter
late-onset Parkinson disease
- ADH1C p.Ile73Val Uncertain significance Single submitter
- ADH1C p.Leu124Pro Uncertain significance Single submitter
- ADH1C p.Leu280Arg Uncertain significance Single submitter
- ADH1C p.Lys160Arg Uncertain significance Single submitter
- ADH1C p.Lys186Glu Uncertain significance Single submitter
- ADH1C p.Lys248Thr Uncertain significance Single submitter
- ADH1C p.Pro120Arg Uncertain significance Single submitter
- ADH1C p.Pro120Leu Uncertain significance Single submitter
- ADH1C p.Ser183Cys Uncertain significance Single submitter
- ADH1C p.Thr146Ser Uncertain significance Single submitter
- ADH1C p.Val208Ile Uncertain significance Single submitter
- ADH1C p.Val269Ile Uncertain significance Single submitter
- ADH1C p.Val27Ala Uncertain significance Single submitter
- ADH1C p.Val295Leu Uncertain significance Single submitter
- ADH1C p.Val74Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ADH1C p.Pro352Thr Benign Multiple submitters
- ADH1C p.Ala164Val Uncertain significance Single submitter
- ADH1C p.Glu17Ala Uncertain significance Single submitter
- ADH1C p.Glu28Lys Uncertain significance Single submitter
- ADH1C p.Gly135Arg Uncertain significance Single submitter
- ADH1C p.Val7Gly Uncertain significance Single submitter
All ADH1C variants
Conflicting classifications of pathogenicity 1
- p.Ser134Arg Single submitter ⚠
Benign 4
- p.Arg48His Multiple submitters
- p.Gly78= Multiple submitters
- p.Pro352Thr Multiple submitters ⚠
- p.Asn226= Single submitter
Likely benign 10
- p.Phe141= Multiple submitters
- c.828+6A>T Single submitter
- c.828+7T>A Single submitter
- p.Ala44Thr Single submitter
- p.Leu310= Single submitter
- p.Met307Val Single submitter
- p.Thr371= Single submitter
- p.Val204= Single submitter
- p.Val208Ala Single submitter
- p.Val64Ala Single submitter
Uncertain significance 37
- p.His139Tyr Multiple submitters ⚠
- p.Ala164Val Single submitter ⚠
- p.Arg313His Single submitter
- p.Asn243Lys Single submitter ⚠
- p.Asn305Lys Single submitter
- p.Glu17Ala Single submitter ⚠
- p.Glu28Lys Single submitter ⚠
- p.Gly118Ala Single submitter ⚠
- p.Gly127Val Single submitter ⚠
- p.Gly135Arg Single submitter ⚠
- p.Gly205Asp Single submitter ⚠
- p.Gly211Val Single submitter ⚠
- p.Gly72Ser Single submitter ⚠
- p.His52Leu Single submitter
- p.Ile292Phe Single submitter
- p.Ile356Val Single submitter late-onset Parkinson disease ⚠
- p.Ile73Val Single submitter ⚠
- p.Leu124Pro Single submitter ⚠
- p.Leu280Arg Single submitter ⚠
- p.Lys160Arg Single submitter ⚠
- p.Lys186Glu Single submitter ⚠
- p.Lys248Thr Single submitter ⚠
- p.Met210Thr Single submitter
- p.Met41Thr Single submitter
- p.Pro107= Single submitter alcohol dependence
- p.Pro120Arg Single submitter ⚠
- p.Pro120Leu Single submitter ⚠
- p.Ser178Leu Single submitter
- p.Ser183Cys Single submitter ⚠
- p.Thr146Ser Single submitter ⚠
- p.Val208Ile Single submitter ⚠
- p.Val223Met Single submitter
- p.Val269Ile Single submitter ⚠
- p.Val27Ala Single submitter ⚠
- p.Val295Leu Single submitter ⚠
- p.Val74Met Single submitter ⚠
- p.Val7Gly Single submitter ⚠