ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.608delinsGA (p.Val203fs)

dbSNP: rs1597858862
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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 RCV001024883 SCV001186974 likely pathogenic Hereditary cancer-predisposing syndrome 2018-01-05 criteria provided, single submitter clinical testing The c.608delTinsGA variant, located in coding exon 7 of the RAD51D gene, results from the deletion of one nucleotide and insertion of two nucleotides causing a translational frameshift with a predicted alternate stop codon (p.V203Gfs*124). This stop codon occurs at the 3' terminus of RAD51D, removes the last 3 amino acids of the protein and is not expected to trigger nonsense-mediated mRNA decay; however, this alteration changes 123 amino acids in the highly conserved Walker B motif of the RAD51D protein that is required for ATPase function and XRCC2 binding (Wiese C et al. Nucleic Acids Res., 2006 May;34:2833-43). Based on the available evidence to date, this variant is likely to be pathogenic.

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