ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.36del (p.Ala13fs)

dbSNP: rs1566174065
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704628 SCV000833584 pathogenic Retinoblastoma 2018-05-30 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 not been reported in the literature in individuals with RB1-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Ala13Profs*52) in the RB1 gene. It is expected to result in an absent or disrupted protein product.

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