ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.122C>T (p.Ala41Val)

gnomAD frequency: 0.00077  dbSNP: rs371950209
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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 RCV000537989 SCV000655858 likely benign Combined oxidative phosphorylation defect type 27 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001560604 SCV001783048 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001560604 SCV002822107 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CARS2: BS1
PreventionGenetics, part of Exact Sciences RCV003952875 SCV004771725 likely benign CARS2-related disorder 2023-10-17 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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