ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.10A>G (p.Thr4Ala)

dbSNP: rs1037184355
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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 RCV001324756 SCV001515721 uncertain significance Combined oxidative phosphorylation defect type 27 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 4 of the CARS2 protein (p.Thr4Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. 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 affected 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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