ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.230C>T (p.Thr77Ile) (rs777826765)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579468 SCV000686432 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-22 criteria provided, single submitter clinical testing
Invitae RCV000542821 SCV000651723 uncertain significance Breast-ovarian cancer, familial 4 2017-03-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 77 of the RAD51D protein (p.Thr77Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs777826765, ExAC 0.006%) but has not been reported in the literature in individuals with a RAD51D-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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