ATP6V0C — 53 ClinVar variants
All ClinVar germline ATP6V0C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
10 Pathogenic · 10 Likely pathogenic · 1 Conflicting · 2 Likely benign · 30 Uncertain significance
Full ATP6V0C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V0C p.Val129Met Uncertain significance Multiple submitters
- ATP6V0C p.Ala138Pro Uncertain significance Single submitter
-
ATP6V0C p.Arg126Pro
Uncertain significance
Single submitter
epilepsy, early-onset, 3, with or without developmental delay
- ATP6V0C p.Asp83Asn Uncertain significance Single submitter
- ATP6V0C p.Gln124Pro Uncertain significance Single submitter
- ATP6V0C p.Gly117Asp Uncertain significance Single submitter
-
ATP6V0C p.Gly145Cys
Uncertain significance
Single submitter
epilepsy, early-onset, 3, with or without developmental delay
-
ATP6V0C p.Gly145Ser
Uncertain significance
Single submitter
epilepsy, early-onset, 3, with or without developmental delay
-
ATP6V0C p.Gly38Val
Uncertain significance
Single submitter
febrile seizures, familial
- ATP6V0C p.Gly63Ser Uncertain significance Single submitter
- ATP6V0C p.Gly69Arg Uncertain significance Single submitter
-
ATP6V0C p.Gly69Val
Uncertain significance
Single submitter
epilepsy, early-onset, 3, with or without developmental delay
- ATP6V0C p.Gly96Asp Uncertain significance Single submitter
- ATP6V0C p.Ile84Leu Uncertain significance Single submitter
- ATP6V0C p.Lys5Arg Uncertain significance Single submitter
- ATP6V0C p.Met53Lys Uncertain significance Single submitter
- ATP6V0C p.Pro58Ala Uncertain significance Single submitter
- ATP6V0C p.Ser85Cys Uncertain significance Single submitter
- ATP6V0C p.Thr34Arg Uncertain significance Single submitter
- ATP6V0C p.Val16Ile Uncertain significance Single submitter
- ATP6V0C p.Val99Met Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All ATP6V0C variants
Pathogenic 10
- p.Ala149Thr Single submitter
- p.Gly63Ala Single submitter
- p.Leu150Phe Single submitter
- p.Ter156Leu Single submitter Seizure
- c.260_263+11del No assertion criteria epilepsy, early-onset, 3, with or without developmental delay
- p.Ala22Thr No assertion criteria epilepsy, early-onset, 3, with or without developmental delay
- p.Ala95Pro No assertion criteria EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY
- p.Phe137Leu No assertion criteria EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY
- p.Ser45fs No assertion criteria EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY
- p.Thr121fs No assertion criteria epilepsy, early-onset, 3, with or without developmental delay
Likely pathogenic 10
- p.Ala95Thr Single submitter childhood-onset epilepsy syndrome
- p.Arg126Ter Single submitter epilepsy, early-onset, 3, with or without developmental delay
- p.Gly142Asp Single submitter
- p.Gly142Cys Single submitter
- p.Ile132Asn Single submitter
- p.Leu135Pro Single submitter
- p.Met53Arg Single submitter
- p.Pro49Leu Single submitter Seizure
- p.Ser89fs Single submitter epilepsy, early-onset, 3, with or without developmental delay
- p.Val24fs Single submitter epilepsy, early-onset, 3, with or without developmental delay
Conflicting classifications of pathogenicity 1
- p.Val99_Ser102del Single submitter epilepsy, early-onset, 3, with or without developmental delay
Uncertain significance 30
- p.Val129Met Multiple submitters ⚠
- c.80-1G>T Single submitter
- c.*136C>T Single submitter epilepsy, early-onset, 3, with or without developmental delay
- p.Ala138Pro Single submitter ⚠
- p.Ala19Ser Single submitter ⚠
- p.Ala27Thr Single submitter ⚠
- p.Ala66Ser Single submitter ⚠
- p.Arg126Pro Single submitter epilepsy, early-onset, 3, with or without developmental delay ⚠
- p.Asp83Asn Single submitter ⚠
- p.Gln124Pro Single submitter ⚠
- p.Gln92Ter Single submitter
- p.Gly117Asp Single submitter ⚠
- p.Gly145Cys Single submitter epilepsy, early-onset, 3, with or without developmental delay ⚠
- p.Gly145Ser Single submitter epilepsy, early-onset, 3, with or without developmental delay ⚠
- p.Gly38Val Single submitter febrile seizures, familial ⚠
- p.Gly63Ser Single submitter ⚠
- p.Gly69Arg Single submitter ⚠
- p.Gly69Val Single submitter epilepsy, early-onset, 3, with or without developmental delay ⚠
- p.Gly96Asp Single submitter ⚠
- p.Ile84Leu Single submitter ⚠
- p.Leu133_Ile134insLeu Single submitter
- p.Lys5Arg Single submitter ⚠
- p.Met53Lys Single submitter ⚠
- p.Pro58Ala Single submitter ⚠
- p.Ser85Cys Single submitter ⚠
- p.Thr34Arg Single submitter ⚠
- p.Val118fs Single submitter
- p.Val16Ile Single submitter ⚠
- p.Val99fs Single submitter
- p.Val99Met Single submitter ⚠