ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.125G>C (p.Trp42Ser)

gnomAD frequency: 0.00012  dbSNP: rs779385700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586313 SCV001812703 uncertain significance not provided 2024-08-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002072309 SCV002385817 likely benign Combined oxidative phosphorylation defect type 27 2023-09-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001586313 SCV005409653 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing BS1

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