Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000567062 | SCV000663673 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-07-22 | criteria provided, single submitter | clinical testing | The c.2314delG pathogenic mutation, located in coding exon 14 of the RAD50 gene, results from a deletion of one nucleotide at nucleotide position 2314, causing a translational frameshift with a predicted alternate stop codon (p.E772Kfs*7). 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 | RCV000567062 | SCV001578214 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-12-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu772Lysfs*7) 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: 480433). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003470839 | SCV004207431 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2022-08-29 | criteria provided, single submitter | clinical testing |