ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.358G>A (p.Asp120Asn)

gnomAD frequency: 0.00001  dbSNP: rs988495210
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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 RCV001863700 SCV002118193 uncertain significance Combined oxidative phosphorylation defect type 27 2021-05-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 120 of the CARS2 protein (p.Asp120Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with CARS2-related conditions. This variant is not present in population databases (ExAC no frequency).

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