ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.217C>A (p.Pro73Thr)

dbSNP: rs1555593541
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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 RCV001886557 SCV002152777 uncertain significance Fanconi anemia complementation group O 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 73 of the RAD51C protein (p.Pro73Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. 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 threonine 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).

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