ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.800C>T (p.Ser267Phe) (rs1064793702)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479504 SCV000566821 uncertain significance not provided 2018-04-19 criteria provided, single submitter clinical testing This variant is denoted RAD51D c.800C>T at the cDNA level, p.Ser267Phe (S267F) at the protein level, and results in the change of a Serine to a Phenylalanine (TCC>TTC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD51D Ser267Phe was not observed in large population cohorts (Lek 2016). This variant is located in the RAD51C binding domain (Miller 2004). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether RAD51D Ser267Phe is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV001183704 SCV001349510 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-06 criteria provided, single submitter clinical testing
Invitae RCV001229518 SCV001401965 uncertain significance Breast-ovarian cancer, familial 4 2019-10-03 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 267 of the RAD51D protein (p.Ser267Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. 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: 419184). 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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