ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.72G>T (p.Arg24Ser) (rs28363257)

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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 RCV000562459 SCV000671947 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Invitae RCV000226520 SCV000287720 uncertain significance Breast-ovarian cancer, familial 4 2016-02-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 24 of the RAD51D protein (p.Arg24Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs28363257, ExAC 0.02%) 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 is a rare 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. Therefore, it has been classified as a Variant of Uncertain Significance.

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