Sugi Variant

Sugi Variant/ATP1A1

ATP1A1 — 912 ClinVar variants

All ClinVar germline ATP1A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 316 flagged for review →

10 Pathogenic · 3 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 11 Conflicting · 47 Benign · 15 Benign/Likely benign · 451 Likely benign · 361 Uncertain significance

Full ATP1A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 316

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 7

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

Predictors lean, ClinVar uncertain 166

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 166

Predictors split 142

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

All ATP1A1 variants

Pathogenic 10

  • p.Leu48Arg Multiple submitters Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.Pro600Ala Multiple submitters Charcot-Marie-tooth disease, axonal, type 2DD
  • p.Gly877Ser Single submitter
  • p.Leu302Arg Single submitter hypomagnesemia, seizures, and intellectual disability 2
  • p.Gly303Arg No assertion criteria hypomagnesemia, seizures, and intellectual disability 2
  • p.Leu104Arg No assertion criteria aldosterone-producing adrenal cortex adenoma
  • p.Leu302Pro No assertion criteria hypomagnesemia, seizures, and intellectual disability 2
  • p.Phe100_Leu104del No assertion criteria aldosterone-producing adrenal cortex adenoma
  • p.Trp931Arg No assertion criteria hypomagnesemia, seizures, and intellectual disability 2
  • p.Val332Gly No assertion criteria aldosterone-producing adrenal cortex adenoma

Pathogenic/Likely pathogenic 3

  • p.Asp933Asn Multiple submitters Inborn genetic diseases
  • p.Gly549Arg Multiple submitters Charcot-Marie-tooth disease, axonal, type 2DD
  • p.Ile592Thr Multiple submitters Inborn genetic diseases

Likely pathogenic 14

  • p.Leu844Pro Multiple submitters intellectual disability
  • p.Ser207Phe Multiple submitters Charcot-Marie-tooth disease, axonal, type 2DD ⚠
  • p.Ala274Gly Single submitter hypomagnesemia, seizures, and intellectual disability 2
  • p.Cys343Tyr Single submitter Charcot-Marie-tooth disease, axonal, type 2DD
  • p.Cys937fs Single submitter Charcot-Marie-tooth disease, axonal, type 2DD
  • p.Glu334Ala Single submitter
  • p.Gly667Ser Single submitter
  • p.Gly864Arg Single submitter hypomagnesemia, seizures, and intellectual disability 2
  • p.Met859Arg Single submitter hypomagnesemia, seizures, and intellectual disability 2
  • p.Phe923Tyr Single submitter
  • p.Pro333Arg Single submitter Marfanoid habitus and intellectual disability
  • p.Pro600Arg Single submitter Charcot-Marie-tooth disease, axonal, type 2DD
  • p.Pro600Thr Single submitter Charcot-Marie-Tooth disease type 2A2
  • p.Glu334Gly No assertion criteria Charcot-Marie-tooth disease, axonal, type 2DD

Conflicting classifications of pathogenicity 11

Benign 47

Benign/Likely benign 15

Likely benign 451

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 361

Showing the top 300 by review status; the full set is in the sitemap.