ATP6V1G3 — 20 ClinVar variants
All ClinVar germline ATP6V1G3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
3 Likely benign · 17 Uncertain significance
Full ATP6V1G3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 lean, ClinVar uncertain 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V1G3 p.Ala116Gly Uncertain significance Single submitter
- ATP6V1G3 p.Arg115Lys Uncertain significance Single submitter
- ATP6V1G3 p.Asn85Ser Uncertain significance Single submitter
- ATP6V1G3 p.Asn89Ser Uncertain significance Single submitter
- ATP6V1G3 p.Asp45Gly Uncertain significance Single submitter
- ATP6V1G3 p.Ile81Leu Uncertain significance Single submitter
- ATP6V1G3 p.Ile8Leu Uncertain significance Single submitter
- ATP6V1G3 p.Leu78Arg Uncertain significance Single submitter
- ATP6V1G3 p.Leu99Ile Uncertain significance Single submitter
- ATP6V1G3 p.Ser101Asn Uncertain significance Single submitter
- ATP6V1G3 p.Ser3Arg Uncertain significance Single submitter
- ATP6V1G3 p.Ser5Pro Uncertain significance Single submitter
- ATP6V1G3 p.Ser94Asn Uncertain significance Single submitter
- ATP6V1G3 p.Val103Ile Uncertain significance Single submitter
- ATP6V1G3 p.Val42Gly Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All ATP6V1G3 variants
Likely benign 3
- p.Gly79Glu Single submitter
- p.Lys34= Single submitter
- p.Met106Val Single submitter
Uncertain significance 17
- p.Ala116Gly Single submitter ⚠
- p.Arg115Lys Single submitter ⚠
- p.Asn85Ser Single submitter ⚠
- p.Asn89Ser Single submitter ⚠
- p.Asp45Gly Single submitter ⚠
- p.Ile81Leu Single submitter ⚠
- p.Ile8Leu Single submitter ⚠
- p.Leu78Arg Single submitter ⚠
- p.Leu99Ile Single submitter ⚠
- p.Ser101Asn Single submitter ⚠
- p.Ser3Arg Single submitter ⚠
- p.Ser5Pro Single submitter ⚠
- p.Ser60Pro Single submitter ⚠
- p.Ser94Asn Single submitter ⚠
- p.Thr77Ala Single submitter ⚠
- p.Val103Ile Single submitter ⚠
- p.Val42Gly Single submitter ⚠