ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.270T>A (p.Asp90Glu) (rs1567728766)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708748 SCV000822176 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000708748 SCV001177184 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-31 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001062797 SCV001227620 uncertain significance Breast-ovarian cancer, familial 4 2019-07-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 90 of the RAD51D protein (p.Asp90Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 584559). 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 disruptive, 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 RCV000708748 SCV001355213 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-08 criteria provided, single submitter clinical testing

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