ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2263C>T (p.Gln755Ter)

gnomAD frequency: 0.00001  dbSNP: rs765975825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574322 SCV000663677 pathogenic Hereditary cancer-predisposing syndrome 2022-01-24 criteria provided, single submitter clinical testing The p.Q755* pathogenic mutation (also known as c.2263C>T), located in coding exon 14 of the RAD50 gene, results from a C to T substitution at nucleotide position 2263. This changes the amino acid from a glutamine to a stop codon within coding exon 14. 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 RCV000574322 SCV000753323 pathogenic Hereditary cancer-predisposing syndrome 2023-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln755*) 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 (rs765975825, gnomAD 0.03%). 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: 480435). For these reasons, this variant has been classified as Pathogenic.

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