ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.958C>T (p.Arg320Ter) (rs121913300)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492534 SCV000580769 pathogenic Hereditary cancer-predisposing syndrome 2017-07-06 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000114716 SCV000754146 pathogenic Retinoblastoma 2018-05-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg320*) 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 reported in individuals and families affected with retinoblastoma (PMID: 7704558, 28575107, 25754945, 24225018, 12541220, 15605413). This variant is also known as g.64348C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 126824). 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 RCV000114716 SCV000087348 pathogenic Retinoblastoma 2013-09-16 no assertion criteria provided clinical testing
Database of Curated Mutations (DoCM) RCV000114716 SCV000504837 likely pathogenic Retinoblastoma 2015-07-14 no assertion criteria provided literature only

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