ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1507G>T (p.Glu503Ter)

dbSNP: rs2149842183
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380815 SCV001578995 pathogenic Hereditary cancer-predisposing syndrome 2021-10-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1069071). This sequence change creates a premature translational stop signal (p.Glu503*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD50-related conditions.

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