Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000167224 | SCV000218061 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-04-28 | criteria provided, single submitter | clinical testing | The c.1208_1209dupGA pathogenic mutation, located in coding exon 8 of the RAD50 gene, results from a duplication of GA at nucleotide position 1208, causing a translational frameshift with a predicted alternate stop codon (p.Q404Dfs*12). 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. |
Invitae | RCV000167224 | SCV001384663 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-09-29 | 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: 187490). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln404Aspfs*12) 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). |
Sema4, |
RCV002257472 | SCV002538444 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2022-03-21 | criteria provided, single submitter | curation |