ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.305_306del (p.Cys102fs)

dbSNP: rs587778825
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000114701 SCV002234352 pathogenic Retinoblastoma 2021-10-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 126809). This variant is also known as 102delGT. This premature translational stop signal has been observed in individual(s) with bilateral retinoblastoma (PMID: 7795591). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys102Tyrfs*7) 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).
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine RCV000114701 SCV000087343 pathogenic Retinoblastoma 2013-09-16 no assertion criteria provided research
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine RCV000114701 SCV000087383 pathogenic Retinoblastoma 2013-09-16 no assertion criteria provided clinical testing

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