ATP5MC3 — 26 ClinVar variants
All ClinVar germline ATP5MC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 3 Benign · 3 Likely benign · 17 Uncertain significance
Full ATP5MC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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ATP5MC3 p.Ala135Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP5MC3 p.Asn46Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP5MC3 p.Asn50Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP5MC3 p.Gln54Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP5MC3 p.Gly89Arg Uncertain significance Single submitter
-
ATP5MC3 p.Met133Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP5MC3 p.Pro33Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP5MC3 p.Ser108Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP5MC3 p.Thr43Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP5MC3 p.Thr62Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
-
ATP5MC3 p.Ile65Val
Likely benign
Multiple submitters
Inborn genetic diseases
-
ATP5MC3 p.Ala16Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP5MC3 p.Ile118Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP5MC3 p.Ser12Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP5MC3 p.Ser12Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP5MC3 p.Ser28Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP5MC3 p.Thr43Met
Uncertain significance
Single submitter
Inborn genetic diseases
All ATP5MC3 variants
Pathogenic 2
- p.Gly79Val No assertion criteria dystonia, early-onset, and/or spastic paraplegia
- p.Pro107Ala No assertion criteria dystonia, early-onset, and/or spastic paraplegia
Likely pathogenic 1
- p.Asn106Lys Single submitter ATP5G3-associated disorder
Benign 3
- p.Arg19= Multiple submitters
- c.120+10G>A Single submitter
- p.Tyr116= Single submitter
Likely benign 3
- p.Ile65Val Multiple submitters Inborn genetic diseases ⚠
- p.Gln57Arg Single submitter Inborn genetic diseases
- p.Pro11Ala Single submitter Inborn genetic diseases
Uncertain significance 17
- p.Ala135Gly Single submitter Inborn genetic diseases ⚠
- p.Ala16Val Single submitter Inborn genetic diseases ⚠
- p.Asn46Ser Single submitter Inborn genetic diseases ⚠
- p.Asn50Ser Single submitter Inborn genetic diseases ⚠
- p.Gln54Arg Single submitter Inborn genetic diseases ⚠
- p.Gly89Arg Single submitter ⚠
- p.Ile118Val Single submitter Inborn genetic diseases ⚠
- p.Leu13fs Single submitter
- p.Met133Leu Single submitter Inborn genetic diseases ⚠
- p.Pro33Ala Single submitter Inborn genetic diseases ⚠
- p.Ser108Leu Single submitter Inborn genetic diseases ⚠
- p.Ser12Cys Single submitter Inborn genetic diseases ⚠
- p.Ser12Phe Single submitter Inborn genetic diseases ⚠
- p.Ser28Leu Single submitter Inborn genetic diseases ⚠
- p.Thr43Lys Single submitter Inborn genetic diseases ⚠
- p.Thr43Met Single submitter Inborn genetic diseases ⚠
- p.Thr62Ile Single submitter ⚠