ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.14C>G (p.Thr5Arg)

dbSNP: rs201523760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572971 SCV000671915 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-03 criteria provided, single submitter clinical testing The p.T5R variant (also known as c.14C>G), located in coding exon 1 of the RAD51C gene, results from a C to G substitution at nucleotide position 14. The threonine at codon 5 is replaced by arginine, an amino acid with similar properties. This alteration was detected in 1/2772 controls and 0/3429 patients with epithelial ovarian cancer (Song H et al. J. Clin. Oncol. 2015 Sep;33:2901-7). This amino acid position is poorly 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.
Color Diagnostics, LLC DBA Color Health RCV000572971 SCV001339971 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-25 criteria provided, single submitter clinical testing This missense variant replaces threonine with arginine at codon 5 of the RAD51C protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251372 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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 RCV002526888 SCV003284924 uncertain significance Fanconi anemia complementation group O 2022-06-11 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 5 of the RAD51C protein (p.Thr5Arg). This variant is present in population databases (rs201523760, gnomAD 0.0009%). 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: 484753). 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. 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.
Baylor Genetics RCV003459372 SCV004208000 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2023-05-24 criteria provided, single submitter clinical testing

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