ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.358_362dup (p.Gln121fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004525308 SCV005034566 pathogenic Hereditary cancer-predisposing syndrome 2023-12-26 criteria provided, single submitter clinical testing The c.358_362dupCTACA pathogenic mutation, located in coding exon 3 of the RB1 gene, results from a duplication of CTACA at nucleotide position 358, causing a translational frameshift with a predicted alternate stop codon (p.Q121Hfs*6). This alteration has been observed in at least one individual with a personal and/or family history that is consistent with RB1-related disease (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine RCV004556883 SCV005046371 pathogenic Retinoblastoma 2024-05-20 criteria provided, single submitter clinical testing Case and Pedigree Information: BILATERAL CASES:1, UNILATERAL CASES:0, TOTAL CASES:1, PEDIGREES:1. ACMG Codes Applied:PVS1, PM2

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