ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1183C>T (p.Gln395Ter)

dbSNP: rs1566196458
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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 RCV000697663 SCV000826288 pathogenic Retinoblastoma 2018-01-17 criteria provided, single submitter clinical testing This variant has been reported in an individua affected with retinoblastoma (PMID: 24791139). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln395*) 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). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Urology, Hospital Clinic de Barcelona RCV003332236 SCV004040607 pathogenic Malignant tumor of urinary bladder no assertion criteria provided research

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