Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381942 | SCV001580519 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-10-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn412Thrfs*3) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). This variant has not been reported in the literature in individuals with RAD50-related conditions. |
Ambry Genetics | RCV001381942 | SCV002661969 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-03-04 | criteria provided, single submitter | clinical testing | The c.1235delA pathogenic mutation, located in coding exon 8 of the RAD50 gene, results from a deletion of one nucleotide at nucleotide position 1235, causing a translational frameshift with a predicted alternate stop codon (p.N412Tfs*3). 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. |