ClinVar Miner

Submissions for variant NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe)

dbSNP: rs2144178477
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001777044 SCV002012603 uncertain significance not provided 2021-02-24 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001777044 SCV002510868 likely pathogenic not provided 2021-09-17 criteria provided, single submitter clinical testing
OMIM RCV003226488 SCV003922376 pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A 2023-05-04 no assertion criteria provided literature only

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