ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.987A>G (p.Ter329Trp)

dbSNP: rs2091526907
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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 RCV001232409 SCV001404967 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2019-09-10 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the RAD51D mRNA. It is expected to extend the length of the RAD51D protein by 56 additional amino acid residues. 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. 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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