ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.916G>A (p.Gly306Arg)

dbSNP: rs587782733
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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 RCV000132231 SCV000187314 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-12 criteria provided, single submitter clinical testing The p.G306R variant (also known as c.916G>A), located in coding exon 7 of the RAD51C gene, results from a G to A substitution at nucleotide position 916. This alteration showed a functionally indeterminant read-out in a homology-directed repair (HDR) assay, RAD51 formation assay, and cisplatin sensitivity assay; it showed a functionally abnormal read-out in a PARP inhibitor sensitivity assay (Hu C et al. Cancer Res, 2023 Aug;83:2557-2571). The glycine at codon 306 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000648234 SCV000770048 uncertain significance Fanconi anemia complementation group O 2021-07-29 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 RAD51C-related disease. ClinVar contains an entry for this variant (Variation ID: 142808). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 306 of the RAD51C protein (p.Gly306Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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