ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.295A>C (p.Thr99Pro) (rs746416079)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986015 SCV001134798 uncertain significance not provided 2018-12-04 criteria provided, single submitter clinical testing
Color RCV001179028 SCV001343601 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-24 criteria provided, single submitter clinical testing
Invitae RCV001227400 SCV001399758 uncertain significance Breast-ovarian cancer, familial 4 2019-09-18 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 99 of the RAD51D protein (p.Thr99Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline. This variant is present in population databases (rs746416079, ExAC 0.009%). This variant has not been reported in the literature in individuals with RAD51D-related conditions. 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: "Probably 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.

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