ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.437_439TCC[1] (p.Leu147del) (rs1555568303)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777279 SCV000912981 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-05 criteria provided, single submitter clinical testing
Invitae RCV000547907 SCV000651746 uncertain significance Breast-ovarian cancer, familial 4 2017-02-06 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 5 of the RAD51D mRNA (c.440_442delTCC). This leads to the deletion of 1 amino acid residue in the RAD51D protein (p.Leu147del) 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 deleted amino acid is currently unknown. In summary, this 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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