ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.374C>T (p.Ala125Val) (rs1390812423)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558040 SCV000651741 uncertain significance Breast-ovarian cancer, familial 4 2019-11-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 125 of the RAD51D protein (p.Ala125Val). The alanine residue is weakly 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 conditions. ClinVar contains an entry for this variant (Variation ID: 472604). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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.
Ambry Genetics RCV000565976 SCV000674692 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-30 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000565976 SCV000686449 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-13 criteria provided, single submitter clinical testing

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