ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1061A>G (p.Asp354Gly)

gnomAD frequency: 0.00001  dbSNP: rs745633983
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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 RCV001326983 SCV001518040 uncertain significance Combined oxidative phosphorylation defect type 27 2022-11-08 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 not expected to disrupt CARS2 protein function. ClinVar contains an entry for this variant (Variation ID: 1026520). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. This variant is present in population databases (rs745633983, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 354 of the CARS2 protein (p.Asp354Gly).
GeneDx RCV002291748 SCV002584031 uncertain significance not provided 2022-04-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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