ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1233A>C (p.Ala411=)

gnomAD frequency: 0.00001  dbSNP: rs1304133948
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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 RCV002549558 SCV001127209 likely benign Combined oxidative phosphorylation defect type 27 2022-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943273 SCV004763432 likely benign CARS2-related disorder 2020-03-13 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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