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
Invitae RCV000542821 SCV000651723 uncertain significance Breast-ovarian cancer, familial 4 2019-11-06 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%). This variant has not been reported in the literature in individuals with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 472593). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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 RCV000579468 SCV000686432 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-24 criteria provided, single submitter clinical testing

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