ATP5MC1 — 18 ClinVar variants
All ClinVar germline ATP5MC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
18 Uncertain significance
Full ATP5MC1 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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP5MC1 p.Ala129Thr Uncertain significance Single submitter
- ATP5MC1 p.Ala50Ser Uncertain significance Single submitter
- ATP5MC1 p.Arg15His Uncertain significance Single submitter
- ATP5MC1 p.Arg19Lys Uncertain significance Single submitter
- ATP5MC1 p.Arg61Gln Uncertain significance Single submitter
- ATP5MC1 p.Arg99Trp Uncertain significance Single submitter
- ATP5MC1 p.Glu53Gln Uncertain significance Single submitter
- ATP5MC1 p.Ile14Asn Uncertain significance Single submitter
- ATP5MC1 p.Leu126Phe Uncertain significance Single submitter
- ATP5MC1 p.Met121Thr Uncertain significance Single submitter
- ATP5MC1 p.Met127Thr Uncertain significance Single submitter
- ATP5MC1 p.Ser102Pro Uncertain significance Single submitter
- ATP5MC1 p.Val89Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All ATP5MC1 variants
Uncertain significance 18
- p.Ala129Thr Single submitter ⚠
- p.Ala135Ser Single submitter ⚠
- p.Ala50Ser Single submitter ⚠
- p.Arg15His Single submitter ⚠
- p.Arg19Lys Single submitter ⚠
- p.Arg52Trp Single submitter ⚠
- p.Arg61Gln Single submitter ⚠
- p.Arg61Trp Single submitter ⚠
- p.Arg99Trp Single submitter ⚠
- p.Glu53Gln Single submitter ⚠
- p.Ile14Asn Single submitter ⚠
- p.Ile95Thr Single submitter
- p.Leu126Phe Single submitter ⚠
- p.Met121Thr Single submitter ⚠
- p.Met127Thr Single submitter ⚠
- p.Ser102Pro Single submitter ⚠
- p.Thr65Ile Single submitter ⚠
- p.Val89Met Single submitter ⚠