ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.805A>G (p.Met269Val)

dbSNP: rs878855181
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707409 SCV000836507 uncertain significance Fanconi anemia complementation group O 2020-07-29 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 269 of the RAD51C protein (p.Met269Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51C-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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