ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.911G>A (p.Gly304Asp) (rs200615280)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130324 SCV000185174 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000130324 SCV000537601 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589378 SCV000698118 uncertain significance not provided 2017-02-23 criteria provided, single submitter clinical testing Variant summary: The RAD51D c.911G>A (p.Gly304Asp) variant involves the alteration of a conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 5/123532 control chromosomes at a frequency of 0.0000405, which does not exceed the estimated maximal expected allele frequency of a pathogenic RAD51D variant (0.000125). The variant was reported in one HBOC spectrum patient in the literature, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Taken together, this variant is classified as VUS.
Invitae RCV000226954 SCV000287732 uncertain significance Breast-ovarian cancer, familial 4 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 304 of the RAD51D protein (p.Gly304Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs200615280, ExAC 0.007%). This variant has not been reported in the literature in individuals with a RAD51D-related disease. ClinVar contains an entry for this variant (Variation ID: 141707). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589378 SCV000888615 uncertain significance not provided 2017-11-20 criteria provided, single submitter clinical testing

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