Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687296 | SCV000814855 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-12-24 | 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: 567271). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn152*) 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). |
KCCC/NGS Laboratory, |
RCV003315440 | SCV004015270 | pathogenic | Familial cancer of breast | 2023-07-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn152*) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals with RAD50-related disease. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). Therefore, this variant has been classified as Pathogenic. |
Biochemical Molecular Genetic Laboratory, |
RCV000984943 | SCV001132857 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2019-01-29 | no assertion criteria provided | clinical testing |