ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.617_622del (p.Asp206_Ser207del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003301194 SCV004001156 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-09 criteria provided, single submitter clinical testing The c.617_622delACTCGG variant (also known as p.D206_S207del) is located in coding exon 7 of the RAD51D gene. This variant results from an in-frame ACTCGG deletion at nucleotide positions 617 to 622. This results in the in-frame deletion of an aspartic acid and a serine residue at codon 206-207. This amino acid region is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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