ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2884G>T (p.Glu962Ter)

dbSNP: rs1561647410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697811 SCV000826442 pathogenic Hereditary cancer-predisposing syndrome 2023-07-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu962*) 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. ClinVar contains an entry for this variant (Variation ID: 575560). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Revvity Omics, Revvity RCV001784329 SCV002019005 likely pathogenic Nijmegen breakage syndrome-like disorder 2019-04-15 criteria provided, single submitter clinical testing

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