ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.752C>T (p.Pro251Leu)

gnomAD frequency: 0.00001  dbSNP: rs557671802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000202394 SCV001567030 uncertain significance Combined oxidative phosphorylation defect type 27 2021-11-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 251 of the CARS2 protein (p.Pro251Leu). This variant is present in population databases (rs557671802, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of a CARS2-related condition (PMID: 25787132). ClinVar contains an entry for this variant (Variation ID: 218178). 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.
OMIM RCV000202394 SCV000257435 pathogenic Combined oxidative phosphorylation defect type 27 2015-03-18 no assertion criteria provided literature only

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