ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.864dup (p.Gly289fs)

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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 RCV003644205 SCV004447010 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2023-03-21 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly289Argfs*38) in the RAD51D gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acid(s) of the RAD51D protein. This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. This variant disrupts a region of the RAD51D protein in which other variant(s) (p.Ala296Profs*14) have been determined to be pathogenic (PMID: 10749867, 14704354, 19327148, 21111057). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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