ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.85G>A (p.Val29Met) (rs1555570422)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000584301 SCV000691374 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-29 criteria provided, single submitter clinical testing
Invitae RCV001217700 SCV001389549 uncertain significance Breast-ovarian cancer, familial 4 2019-07-09 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 29 of the RAD51D protein (p.Val29Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. 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: 492453). 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.

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