ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.884A>C (p.Gln295Pro)

gnomAD frequency: 0.00001  dbSNP: rs781605848
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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 RCV001361521 SCV001557497 uncertain significance Combined oxidative phosphorylation defect type 27 2020-03-18 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CARS2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glutamine with proline at codon 295 of the CARS2 protein (p.Gln295Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline.

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