Sugi Variant

Sugi Variant/ATP6V1A

ATP6V1A — 446 ClinVar variants

All ClinVar germline ATP6V1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 193 flagged for review →

12 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 4 Conflicting · 18 Benign · 7 Benign/Likely benign · 162 Likely benign · 230 Uncertain significance

Full ATP6V1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 193

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 148

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 41

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

All ATP6V1A variants

Pathogenic 12

  • p.Pro319Ser Multiple submitters developmental and epileptic encephalopathy 93
  • p.Asn314Ser Single submitter
  • p.Asp100Tyr Single submitter developmental and epileptic encephalopathy 93
  • p.Met318Ile Single submitter
  • p.Phe432Ile Single submitter developmental and epileptic encephalopathy 93
  • p.Pro412Ser Single submitter Neurodevelopmental abnormality
  • p.Val320Ala Single submitter
  • p.Asp349Asn No assertion criteria developmental and epileptic encephalopathy 93
  • p.Asp371Gly No assertion criteria developmental and epileptic encephalopathy 93
  • p.Glu356Asp No assertion criteria developmental and epileptic encephalopathy 93 ⚠
  • p.Gly363Val No assertion criteria developmental and epileptic encephalopathy 93
  • p.Gly72Asp No assertion criteria autosomal recessive cutis laxa type 2D

Pathogenic/Likely pathogenic 3

  • p.Arg323Gly Multiple submitters Inborn genetic diseases
  • p.Asn314Asp Multiple submitters Cerebral visual impairment and intellectual disability
  • p.Pro27Arg Multiple submitters Inborn genetic diseases

Likely pathogenic 10

  • p.Ser264Pro Multiple submitters Encephalopathy
  • p.Ala357Pro Single submitter developmental and epileptic encephalopathy 93
  • p.Arg212Cys Single submitter
  • p.Asp100Val Single submitter developmental and epileptic encephalopathy 93
  • p.Asp349Glu Single submitter ATP6V1A-related disorder
  • p.Met550Thr Single submitter developmental and epileptic encephalopathy 93 ⚠
  • p.Pro375Thr Single submitter developmental and epileptic encephalopathy 93
  • p.Val312Ala Single submitter Seizure
  • p.Val320Ile Single submitter developmental and epileptic encephalopathy 93
  • p.Gly281Arg No assertion criteria autosomal recessive cutis laxa type 2D

Conflicting classifications of pathogenicity 4

Benign 18

Benign/Likely benign 7

Likely benign 162

Uncertain significance 230