Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387183 | SCV001587746 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-10-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr65Asnfs*24) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 1074013). For these reasons, this variant has been classified as Pathogenic. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002243177 | SCV002512477 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2021-12-15 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PM2 moderate |