ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.7G>C (p.Gly3Arg)

dbSNP: rs376403182
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001188570 SCV001355643 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-19 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 3 of the RAD51C protein. Splice site prediction tools suggest that this variant may not impact RNA splicing. Functional studies have shown that this variant could complement the survival and formation of RAD51 foci in the RAD51C mutant cells (PMID: 20400964). This variant has been reported in individuals affected with familial breast and/or ovarian cancer (PMID: 20400964) and ovarian cancer (PMID: 26261251). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003617911 SCV004433839 uncertain significance Fanconi anemia complementation group O 2023-01-28 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. Experimental studies have shown that this missense change does not substantially affect RAD51C function (PMID: 20400964). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 926172). This missense change has been observed in individual(s) with head and neck squamous cell carcinoma, breast cancer and/or ovarian cancer (PMID: 20400964, 24315737, 26976419). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 3 of the RAD51C protein (p.Gly3Arg).

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