ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.19C>T (p.Arg7Cys)

dbSNP: rs759759863
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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 RCV000559705 SCV000660360 uncertain significance Fanconi anemia complementation group O 2023-06-06 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 missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 478608). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 7 of the RAD51C protein (p.Arg7Cys).
Color Diagnostics, LLC DBA Color Health RCV000582971 SCV000691227 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582971 SCV001174651 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-26 criteria provided, single submitter clinical testing The p.R7C variant (also known as c.19C>T), located in coding exon 1 of the RAD51C gene, results from a C to T substitution at nucleotide position 19. The arginine at codon 7 is replaced by cysteine, an amino acid with highly dissimilar properties. 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.

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