ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.1031A>G (p.Gln344Arg)

gnomAD frequency: 0.00001  dbSNP: rs2049559372
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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 RCV001978048 SCV002265389 uncertain significance Fanconi anemia complementation group O 2023-07-10 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. This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 344 of the RAD51C protein (p.Gln344Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 1476637). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated.
Ambry Genetics RCV002386847 SCV002699523 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-10 criteria provided, single submitter clinical testing The p.Q344R variant (also known as c.1031A>G), located in coding exon 9 of the RAD51C gene, results from an A to G substitution at nucleotide position 1031. The glutamine at codon 344 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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