ATP5PO — 40 ClinVar variants

All ClinVar germline ATP5PO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Benign · 4 Likely benign · 32 Uncertain significance

Full ATP5PO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 32

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 24

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

Predictors split 8

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

All ATP5PO variants

Pathogenic 2

c.329-20A>G Single submitter Severe global developmental delay
p.Gln12Ter Single submitter Severe global developmental delay

Pathogenic/Likely pathogenic 1

c.87+3A>G Multiple submitters Leigh syndrome

Benign 1

p.Asn107= Multiple submitters

Likely benign 4

p.Arg85His Single submitter ⚠
p.Gly206= Single submitter
p.Lys73Arg Single submitter
p.Pro4= Single submitter

Uncertain significance 32

c.198+4A>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
p.Ala25Gly Single submitter ⚠
p.Ala3Pro Single submitter ⚠
p.Ala3Ser Single submitter ⚠
p.Ala3Thr Single submitter ⚠
p.Ala3Val Single submitter ⚠
p.Arg136His Single submitter ⚠
p.Arg188Cys Single submitter ⚠
p.Arg188His Single submitter ⚠
p.Arg210Gln Single submitter ⚠
p.Arg210Trp Single submitter ⚠
p.Arg40Cys Single submitter ⚠
p.Arg85Leu Single submitter ⚠
p.Asp178Gly Single submitter ⚠
p.Cys15Phe Single submitter ⚠
p.Glu191Lys Single submitter ⚠
p.Gly137Arg Single submitter ⚠
p.Gly184Ala Single submitter ⚠
p.Ile189Val Single submitter ⚠
p.Leu154Val Single submitter ⚠
p.Leu161Phe Single submitter ⚠
p.Leu173Ser Single submitter ⚠
p.Leu9Phe Single submitter ⚠
p.Phe24Leu Single submitter ⚠
p.Pro179Leu Single submitter ⚠
p.Pro81Leu Single submitter ⚠
p.Ser7Cys Single submitter ⚠
p.Ser7Pro Single submitter ⚠
p.Thr105Ile Single submitter ⚠
p.Thr96Ile Single submitter ⚠
p.Val139Ile Single submitter ⚠
p.Val13Ala Single submitter ⚠