ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.87_101dup (p.Val32_Leu36dup) (rs1555570417)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537376 SCV000651788 uncertain significance Breast-ovarian cancer, familial 4 2017-05-09 criteria provided, single submitter clinical testing This sequence change inserts 15 nucleotides in exon 2 of the RAD51D mRNA (c.87_101dupGGACCTGGTTTCTGC). This leads to the insertion of 5 amino acid residues in the RAD51D protein (p.Val32_Leu36dup) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAD51D-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, this variant is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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