ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1893del (p.Ala632fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003154585 SCV003843041 uncertain significance Retinoblastoma 2023-02-16 criteria provided, single submitter clinical testing The RB1 c.1893del (p.Ala632GlnfsTer11) change deletes one nucleotide to cause a frameshift and the creation of a premature stop codon. This change is predicted to cause protein truncation or absence of protein due to nonsense-mediated decay. This has been identified in individuals with bilateral retinoblastoma (PMID: 28803391, internal data). This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as pathogenic.

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