ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1535G>A (p.Arg512Gln)

gnomAD frequency: 0.00021  dbSNP: rs200491395
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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 RCV000652713 SCV000774584 likely benign Combined oxidative phosphorylation defect type 27 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV004817847 SCV005439220 uncertain significance not provided 2024-06-14 criteria provided, single submitter clinical testing Reported in an individual with schizophrenia; however, additional clinical information was not provided (PMID: 26740555); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28719003, 26740555)
PreventionGenetics, part of Exact Sciences RCV003953200 SCV004776420 likely benign CARS2-related disorder 2022-06-03 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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