ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.331A>G (p.Ser111Gly)

dbSNP: rs2091620231
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037921 SCV001201358 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2019-03-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RAD51D-related conditions. 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. 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"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 111 of the RAD51D protein (p.Ser111Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine.

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