ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.905G>T (p.Gly302Val)

dbSNP: rs786203304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166551 SCV000217353 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-09 criteria provided, single submitter clinical testing The p.G302V variant (also known as c.905G>T), located in coding exon 7 of the RAD51C gene, results from a G to T substitution at nucleotide position 905. This variant impacts the first base pair of coding exon 7. The glycine at codon 302 is replaced by valine, an amino acid with dissimilar properties. In a homology-directed DNA repair (HDR) assay, this alteration showed a functionally abnormal read-out (Hu C et al. Cancer Res, 2023 Aug;83:2557-2571). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001229445 SCV001401890 uncertain significance Fanconi anemia complementation group O 2023-09-06 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 186893). 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 glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 302 of the RAD51C protein (p.Gly302Val).

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