ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.301C>G (p.Arg101Gly)

gnomAD frequency: 0.00001  dbSNP: rs777672253
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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 RCV001202799 SCV001373926 uncertain significance Combined oxidative phosphorylation defect type 27 2020-04-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CARS2-related conditions. This variant is present in population databases (rs777672253, ExAC 0.003%). This sequence change replaces arginine with glycine at codon 101 of the CARS2 protein (p.Arg101Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine.
Ambry Genetics RCV002561106 SCV003581118 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.301C>G (p.R101G) alteration is located in exon 3 (coding exon 3) of the CARS2 gene. This alteration results from a C to G substitution at nucleotide position 301, causing the arginine (R) at amino acid position 101 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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