Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000226081 | SCV000274945 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-03-17 | criteria provided, single submitter | clinical testing | The c.561dupA pathogenic mutation, located in coding exon 5 of the RAD50 gene, results from a duplication of A at nucleotide position 561, causing a translational frameshift with a predicted alternate stop codon (p.A188Sfs*30). 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 | RCV000226081 | SCV000289074 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-09-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala188Serfs*30) 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 present in population databases (rs774886464, gnomAD 0.0009%). 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: 231180). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000411533 | SCV000489565 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2016-10-26 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000411533 | SCV004209718 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2022-02-28 | criteria provided, single submitter | clinical testing |