ATP5MK — 14 ClinVar variants

All ClinVar germline ATP5MK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 1 Conflicting · 2 Likely benign · 8 Uncertain significance

Full ATP5MK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 8

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 7

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

Predictors split 1

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

ATP5MK p.Asn20Ser Uncertain significance Multiple submitters
mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6

All ATP5MK variants

Pathogenic 1

c.87+1G>C No assertion criteria mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6

Pathogenic/Likely pathogenic 1

c.87+1G>A Multiple submitters mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6

Likely pathogenic 1

c.87+2dup Single submitter mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6

Conflicting classifications of pathogenicity 1

c.-9-1G>T Single submitter mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6

Likely benign 2

p.Ser6Asn Single submitter
p.Thr25= Single submitter

Uncertain significance 8

p.Asn20Ser Multiple submitters mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 ⚠
p.Ala8Gly Single submitter ⚠
p.Ala8Thr Single submitter ⚠
p.Ala8Val Single submitter ⚠
p.Glu5Gln Single submitter ⚠
p.Ile38Thr Single submitter ⚠
p.Leu47Phe Single submitter ⚠
p.Thr23Ile Single submitter ⚠