ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1308G>A (p.Ala436=)

gnomAD frequency: 0.00027  dbSNP: rs141349632
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698311 SCV000533063 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000960764 SCV001107778 benign Combined oxidative phosphorylation defect type 27 2025-01-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000960764 SCV005875872 benign Combined oxidative phosphorylation defect type 27 2024-09-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970222 SCV004781603 likely benign CARS2-related disorder 2019-02-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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