ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1633A>T (p.Lys545Ter)

dbSNP: rs1253904315
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568771 SCV000671834 pathogenic Hereditary cancer-predisposing syndrome 2016-12-28 criteria provided, single submitter clinical testing The p.K545* pathogenic mutation (also known as c.1633A>T), located in coding exon 10 of the RAD50 gene, results from an A to T substitution at nucleotide position 1633. This changes the amino acid from a lysine to a stop codon within coding exon 10. 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 RCV000568771 SCV001579622 pathogenic Hereditary cancer-predisposing syndrome 2021-10-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). This variant has not been reported in the literature in individuals with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 484693). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys545*) in the RAD50 gene. It is expected to result in an absent or disrupted protein product.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.