ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2476C>T (p.Gln826Ter)

dbSNP: rs1334882781
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053003 SCV001217244 pathogenic Hereditary cancer-predisposing syndrome 2021-10-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 849115). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln826*) 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: 16385572, 19409520).

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