ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) (rs1247689593)

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Total submissions: 3
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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 2020-03-05 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 26822949). ClinVar contains an entry for this variant (Variation ID: 480489). Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). For these reasons, this variant has been classified as Pathogenic.

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