ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.136A>G (p.Thr46Ala)

gnomAD frequency: 0.00006  dbSNP: rs771202761
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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 RCV000907615 SCV001052331 likely benign Combined oxidative phosphorylation defect type 27 2023-03-18 criteria provided, single submitter clinical testing
GeneDx RCV003169274 SCV003915000 uncertain significance not provided 2022-10-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004028579 SCV004917941 likely benign Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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