ClinVar Miner

Submissions for variant NM_133629.3(RAD51D):c.267_269GGT[2] (p.Val93del) (rs730881944)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160939 SCV000211646 uncertain significance not provided 2014-06-12 criteria provided, single submitter clinical testing This deletion of 3 nucleotides is denoted RAD51D c.609_611delGGT at the cDNA level and p.Val205del at the protein level. The normal sequence, with the bases that are deleted in brackets, is TGGT[GGT]TGTG. This in frame deletion results in the loss of a single Valine residue at a position that is poorly conserved and is located in the ATPase domain (Miller 2004, Kim 2011). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider RAD51D Val205del to be a variant of uncertain significance.
Invitae RCV000470547 SCV000551364 uncertain significance Breast-ovarian cancer, familial 4 2019-12-13 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides in exon 7 of the RAD51D mRNA (c.609_611delGGT). This leads to the deletion of 1 amino acid residue in the RAD51D protein (p.Val205del). This shortens a valine repeat region of the RAD51D protein from 4 to 3 valines, 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. ClinVar contains an entry for this variant (Variation ID: 182850). 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 variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001024885 SCV001186976 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-01 criteria provided, single submitter clinical testing Insufficient evidence

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