ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1037G>A (p.Arg346Gln)

gnomAD frequency: 0.00003  dbSNP: rs773315723
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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 RCV001203210 SCV001374362 uncertain significance Combined oxidative phosphorylation defect type 27 2022-06-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 346 of the CARS2 protein (p.Arg346Gln). This variant is present in population databases (rs773315723, gnomAD 0.03%). 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: 934756). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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