ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.854G>T (p.Gly285Val)

dbSNP: rs878854565
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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 RCV000226158 SCV000287726 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2015-12-11 criteria provided, single submitter clinical testing In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance. This sequence change replaces glycine with valine at codon 285 of the RAD51D protein (p.Gly285Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAD51D-related disease. 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, but these predictions have not been confirmed by published functional studies.

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