ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.155T>G (p.Val52Gly)

dbSNP: rs1566366322
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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 RCV000703641 SCV000832550 uncertain significance Combined oxidative phosphorylation defect type 27 2018-05-02 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 52 of the CARS2 protein (p.Val52Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CARS2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
OMIM RCV000703641 SCV002106390 pathogenic Combined oxidative phosphorylation defect type 27 2022-03-17 no assertion criteria provided literature only

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