ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.302G>T (p.Arg101Leu)

dbSNP: rs112070421
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002020415 SCV002290899 uncertain significance Combined oxidative phosphorylation defect type 27 2022-07-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1505190). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 101 of the CARS2 protein (p.Arg101Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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