ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.11A>G (p.Lys4Arg)

dbSNP: rs2047798678
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001874958 SCV002140662 uncertain significance Fanconi anemia complementation group O 2021-08-06 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 4 of the RAD51C protein (p.Lys4Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine.

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