Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226547 | SCV000289057 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1164Glyfs*22) 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: 240238). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000576613 | SCV000677840 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2017-03-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000226547 | SCV002612810 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-02-16 | criteria provided, single submitter | clinical testing | The c.3489_3495delAGAAATA pathogenic mutation, located in coding exon 23 of the RAD50 gene, results from a deletion of 7 nucleotides at nucleotide positions 3489 to 3495, causing a translational frameshift with a predicted alternate stop codon (p.E1164Gfs*22). 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. |