ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1259T>C (p.Val420Ala)

gnomAD frequency: 0.00006  dbSNP: rs146878400
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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 RCV000693823 SCV000822242 uncertain significance Combined oxidative phosphorylation defect type 27 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 420 of the CARS2 protein (p.Val420Ala). This variant is present in population databases (rs146878400, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 572443). 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: "Benign"; Align-GVGD: "Class C25"). 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.
Fulgent Genetics, Fulgent Genetics RCV000693823 SCV002779253 uncertain significance Combined oxidative phosphorylation defect type 27 2022-03-30 criteria provided, single submitter clinical testing

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