ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.753G>A (p.Pro251=)

gnomAD frequency: 0.00007  dbSNP: rs149601283
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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 RCV001465320 SCV001669304 likely benign Combined oxidative phosphorylation defect type 27 2022-11-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956019 SCV004766802 likely benign CARS2-related disorder 2019-04-09 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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