ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2065C>T (p.Gln689Ter)

dbSNP: rs1566235470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693421 SCV000821289 pathogenic Retinoblastoma 2018-10-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). This variant has been observed to be de novo in an individual affected with retinoblastoma (PMID: 28193182). This variant is also known as g.156797C>T in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln689*) in the RB1 gene. It is expected to result in an absent or disrupted protein product.
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine RCV000693421 SCV005046257 pathogenic Retinoblastoma 2024-05-20 criteria provided, single submitter clinical testing Case and Pedigree Information: BILATERAL CASES:1, UNILATERAL CASES:0, TOTAL CASES:1, PEDIGREES:1. ACMG Codes Applied:PVS1, PM2

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