Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000476546 | SCV000548064 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg278*) 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 (rs766315644, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 25452441). ClinVar contains an entry for this variant (Variation ID: 408402). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV000476546 | SCV000663604 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-04-28 | criteria provided, single submitter | clinical testing | The p.R278* pathogenic mutation (also known as c.832C>T), located in coding exon 6 of the RAD50 gene, results from a C to T substitution at nucleotide position 832. This changes the amino acid from an arginine to a stop codon within coding exon 6. This mutation has been detected in 1/1824 patients with triple negative breast cancer who were unselected for a family history of breast or ovarian cancer (Couch FJ et al. J. Clin. Oncol. 2015 Feb;33:304-11) as well as 1/615 unselected patients with a pancreatic exocrine neoplasm (Lower MA et al. J. Natl. Cancer Inst. 2018 Oct;110(10):1067-1074). In addition to the clinical data presented in the literature, 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. |
Baylor Genetics | RCV003463903 | SCV004207332 | pathogenic | Nijmegen breakage syndrome-like disorder | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Genome |
RCV003483622 | SCV004228484 | not provided | not provided | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 10-08-2015 by Lab Ambry Genetics. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |