ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.238C>A (p.Pro80Thr)

dbSNP: rs1408025958
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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 RCV000685061 SCV000812533 uncertain significance Combined oxidative phosphorylation defect type 27 2018-02-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 80 of the CARS2 protein (p.Pro80Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant has not been reported in the literature in individuals with CARS2-related disease. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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