ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.221C>T (p.Ser74Phe)

dbSNP: rs2063932913
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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 RCV001211238 SCV001382766 uncertain significance Combined oxidative phosphorylation defect type 27 2019-07-30 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 74 of the CARS2 protein (p.Ser74Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with CARS2-related conditions. 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 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.

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