ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.955C>G (p.Arg319Gly)

dbSNP: rs587781287
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001897895 SCV002150638 uncertain significance Fanconi anemia complementation group O 2022-10-05 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RAD51C protein function. ClinVar contains an entry for this variant (Variation ID: 1385087). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 319 of the RAD51C protein (p.Arg319Gly).
Ambry Genetics RCV002370444 SCV002691953 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-18 criteria provided, single submitter clinical testing The p.R319G variant (also known as c.955C>G), located in coding exon 7 of the RAD51C gene, results from a C to G substitution at nucleotide position 955. The arginine at codon 319 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150465 SCV003837700 uncertain significance Breast and/or ovarian cancer 2021-06-21 criteria provided, single submitter clinical testing

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