Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562754 | SCV000663749 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-07-31 | criteria provided, single submitter | clinical testing | The p.R365* pathogenic mutation (also known as c.1093C>T), located in coding exon 8 of the RAD50 gene, results from a C to T substitution at nucleotide position 1093. This changes the amino acid from an arginine to a stop codon within coding exon 8. In one Czech study, this mutation was observed in 1/325 high-risk breast cancer patients and 0/105 controls who underwent testing for 25 genes (Lhota F et al. Clin. Genet. 2016 Oct;90:324-33). 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. |
Counsyl | RCV000576837 | SCV000677867 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2017-03-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000562754 | SCV001233112 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-11-25 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 480489). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 26822949). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg365*) 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). For these reasons, this variant has been classified as Pathogenic. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000576837 | SCV003807478 | pathogenic | Nijmegen breakage syndrome-like disorder | 2022-11-18 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderated |
Baylor Genetics | RCV000576837 | SCV004207412 | pathogenic | Nijmegen breakage syndrome-like disorder | 2023-04-20 | criteria provided, single submitter | clinical testing |