Total submissions: 2
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, |
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 |