ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.409G>T (p.Glu137Ter) (rs121913296)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000114702 SCV000949197 pathogenic Retinoblastoma 2018-09-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu137*) in the RB1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with retinoblastoma (PMID: 8651278, 12173465, 22963398). ClinVar contains an entry for this variant (Variation ID: 126810). Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). For these reasons, this variant has been classified as Pathogenic.
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine RCV000114702 SCV000087344 pathogenic Retinoblastoma 2013-09-16 no assertion criteria provided clinical testing
Database of Curated Mutations (DoCM) RCV000427414 SCV000505673 likely pathogenic Neoplasm 2015-07-14 no assertion criteria provided literature only

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