ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.1001G>A (p.Cys334Tyr)

gnomAD frequency: 0.00001  dbSNP: rs745888157
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042969 SCV001206679 likely benign Combined oxidative phosphorylation defect type 14 2024-11-09 criteria provided, single submitter clinical testing
GeneDx RCV001578008 SCV001805520 uncertain significance not provided 2021-11-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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