Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232037 | SCV000289053 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-01-25 | criteria provided, single submitter | clinical testing | This sequence change deletes 8 nucleotides and inserts 1 nucleotide in exon 21 of the RAD50 mRNA (c.3266_3273delinsT), causing a frameshift at codon 1089. This creates a premature translational stop signal (p.Lys1089Ilefs*17) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in RAD50 are known to be pathogenic (PMID: 19409520, 16385572). For these reasons, this variant has been classified as Pathogenic. |