ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.101C>T (p.Ala34Val) (rs876658968)

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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 RCV000214363 SCV000274863 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000214363 SCV000913999 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588755 SCV000698089 uncertain significance not provided 2016-04-18 criteria provided, single submitter clinical testing Variant summary: The c.101C>T variant in RAD51D gene is a missense change that involves a conserved nucleotide and 3/4 in silico tools predict benign outcome. The variant is absent in the control population dataset of ExAC. To our knowledge, it has not been previously reported in affected individuals via publications or cited in any databases. Taken together, the variant was classified as VUS until more data becomes available.
Invitae RCV000649678 SCV000771510 uncertain significance Breast-ovarian cancer, familial 4 2018-10-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 34 of the RAD51D protein (p.Ala34Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51D-related disease. ClinVar contains an entry for this variant (Variation ID: 231115). 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.

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