ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.5T>G (p.Leu2Trp)

dbSNP: rs2063949254
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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 RCV001237820 SCV001410600 uncertain significance Combined oxidative phosphorylation defect type 27 2019-08-14 criteria provided, single submitter clinical testing This sequence change replaces leucine with tryptophan at codon 2 of the CARS2 protein (p.Leu2Trp). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and tryptophan. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with CARS2-related conditions. 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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