ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.868_869dup (p.Asn290fs)

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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 RCV003154579 SCV003843012 uncertain significance Retinoblastoma 2023-01-24 criteria provided, single submitter clinical testing The RB1 c.868_869dup (p.Asn290LysfsTer12) change inserts two nucleotides 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 an individual with bilateral retinoblastoma (internal data). Another frameshift variant affecting the same amino acid has been reported in the tumor and/or blood of an individual with retinoblastoma (PMID: 24225018). 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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