ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.693_726del (p.Arg232fs)

dbSNP: rs1597858243
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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 RCV001025815 SCV001188076 pathogenic Hereditary cancer-predisposing syndrome 2023-12-04 criteria provided, single submitter clinical testing The c.693_726del34 pathogenic mutation, located in coding exon 8 of the RAD51D gene, results from a deletion of 34 nucleotides at nucleotide positions 693 to 726, causing a translational frameshift with a predicted alternate stop codon (p.R232Wfs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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