ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.550G>A (p.Glu184Lys) (rs200009601)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167033 SCV000217856 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-30 criteria provided, single submitter clinical testing The p.E184K variant (also known as c.550G>A), located in coding exon 6 of the RAD51D gene, results from a G to A substitution at nucleotide position 550. The glutamic acid at codon 184 is replaced by lysine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507856 SCV000602161 uncertain significance not specified 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV000538714 SCV000651757 uncertain significance Breast-ovarian cancer, familial 4 2019-10-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 184 of the RAD51D protein (p.Glu184Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs200009601, ExAC 0.05%). This variant has not been reported in the literature in individuals with RAD51D-related disease. ClinVar contains an entry for this variant (Variation ID: 187314). 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 and their clinical significance is uncertain. 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.
Color RCV000167033 SCV000686467 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-03 criteria provided, single submitter clinical testing

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