Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001380049 | SCV001577981 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-10-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1068476). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 16385572). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln350*) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 19409520). |
| Ambry Genetics | RCV001380049 | SCV002706317 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-12-08 | criteria provided, single submitter | clinical testing | The p.Q350* variant (also known as c.1048C>T), located in coding exon 7 of the RAD50 gene, results from a C to T substitution at nucleotide position 1048. This changes the amino acid from a glutamine to a stop codon within coding exon 7. In one study of familial breast cancer cases from the UK and Finland, this variant was reported in a patient with bilateral breast cancer diagnosed at 43 years of age (Tommiska J et al. Int. J. Cancer. 2006 Jun;118:2911-6). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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. |