ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.562A>G (p.Thr188Ala)

dbSNP: rs1594372405
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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 RCV000818131 SCV000958728 uncertain significance Combined oxidative phosphorylation defect type 27 2018-12-13 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 188 of the CARS2 protein (p.Thr188Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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