ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.968delinsAAG (p.Leu323Ter)

dbSNP: rs1597855329
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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 RCV001019623 SCV001181005 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-05 criteria provided, single submitter clinical testing The c.968delTinsAAG variant, located in coding exon 10 of the RAD51D gene, results from the deletion of one nucleotide and insertion of 3 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.L323*). Premature stop codons are typically deleterious in nature, however, this stop codon occurs at the 3' terminus of RAD51D, is not expected to trigger nonsense-mediated mRNA decay, and removes only the last 6 amino acids of the protein. The exact functional impact of these removed amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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