ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.1280A>G (p.Gln427Arg)

gnomAD frequency: 0.00002  dbSNP: rs778281728
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945681 SCV001091722 likely benign Combined oxidative phosphorylation defect type 14 2024-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001585876 SCV001811165 uncertain significance not provided 2020-06-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Mayo Clinic Laboratories, Mayo Clinic RCV001585876 SCV004227182 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing

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