ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1040G>A (p.Ser347Asn)

gnomAD frequency: 0.00003  dbSNP: rs1052359973
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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 RCV001049121 SCV001213155 uncertain significance Combined oxidative phosphorylation defect type 27 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 347 of the CARS2 protein (p.Ser347Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. 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: "Tolerated"; 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.

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