ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.880C>T (p.His294Tyr)

gnomAD frequency: 0.00001  dbSNP: rs201349963
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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 RCV000542146 SCV000655884 uncertain significance Combined oxidative phosphorylation defect type 27 2019-07-18 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on CARS2 function. The available evidence is currently insufficient to determine its role 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with a CARS2-related disease. This variant is present in population databases (rs201349963, ExAC 0.01%). This sequence change replaces histidine with tyrosine at codon 294 of the CARS2 protein (p.His294Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine.

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