ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1723C>T (p.Gln575Ter)

dbSNP: rs587778864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine RCV000114676 SCV000087399 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000114676 SCV002228722 pathogenic Retinoblastoma 2024-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln575*) in the RB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinoblastoma (PMID: 8651278, 33456302). ClinVar contains an entry for this variant (Variation ID: 126784). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000114676 SCV005880393 pathogenic Retinoblastoma 2025-03-10 criteria provided, single submitter clinical testing

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