ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.826A>C (p.Ile276Leu) (rs1555567119)

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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 RCV000564944 SCV000667162 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000536162 SCV000651785 uncertain significance Breast-ovarian cancer, familial 4 2018-12-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 276 of the RAD51D protein (p.Ile276Leu). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and leucine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a novel 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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