ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.259G>A (p.Gly87Ser) (rs767681165)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568048 SCV000671951 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Invitae RCV000548974 SCV000651726 uncertain significance Breast-ovarian cancer, familial 4 2018-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 87 of the RAD51D protein (p.Gly87Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs767681165, ExAC 0.002%) but 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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