ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.302G>A (p.Arg101Gln)

gnomAD frequency: 0.00094  dbSNP: rs112070421
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553087 SCV000655871 likely benign Combined oxidative phosphorylation defect type 27 2025-01-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000553087 SCV001524878 uncertain significance Combined oxidative phosphorylation defect type 27 2019-06-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001566887 SCV001790474 uncertain significance not provided 2020-02-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
PreventionGenetics, part of Exact Sciences RCV003935538 SCV004755454 likely benign CARS2-related disorder 2020-01-20 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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