ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.417C>T (p.Leu139=)

gnomAD frequency: 0.23275  dbSNP: rs2304767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428508 SCV000517526 benign not specified 2016-01-21 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 RCV001515225 SCV001723246 benign Combined oxidative phosphorylation defect type 27 2025-02-04 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000428508 SCV005091636 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 49% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 46. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004707227 SCV005229860 benign not provided criteria provided, single submitter not provided

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