ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1132C>T (p.Arg378Cys)

gnomAD frequency: 0.01302  dbSNP: rs79081036
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425510 SCV000521848 benign not specified 2016-03-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000558835 SCV000655857 benign Combined oxidative phosphorylation defect type 27 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707239 SCV005229837 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003912671 SCV004736806 benign CARS2-related disorder 2019-07-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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