ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.868T>C (p.Cys290Arg)

dbSNP: rs1240392926
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213338 SCV001384964 uncertain significance Combined oxidative phosphorylation defect type 27 2023-07-06 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CARS2 protein function. ClinVar contains an entry for this variant (Variation ID: 943195). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 290 of the CARS2 protein (p.Cys290Arg).
Fulgent Genetics, Fulgent Genetics RCV001213338 SCV002812860 uncertain significance Combined oxidative phosphorylation defect type 27 2021-09-16 criteria provided, single submitter clinical testing

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