ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.954G>A (p.Met318Ile)

gnomAD frequency: 0.00001  dbSNP: rs767180583
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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 RCV001234748 SCV001407406 uncertain significance Combined oxidative phosphorylation defect type 27 2020-01-21 criteria provided, single submitter clinical testing 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: "Probably Damaging"; 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. This variant has not been reported in the literature in individuals with CARS2-related conditions. This variant is present in population databases (rs767180583, ExAC 0.009%). This sequence change replaces methionine with isoleucine at codon 318 of the CARS2 protein (p.Met318Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine.

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