ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1060_1061del (p.Gln354fs)

dbSNP: rs587778829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine RCV000114720 SCV000087349 pathogenic Retinoblastoma 2024-05-20 criteria provided, single submitter clinical testing Case and Pedigree Information: BILATERAL CASES:1, UNILATERAL CASES:1, TOTAL CASES:2, PEDIGREES:2. ACMG Codes Applied:PVS1, PM2
Ambry Genetics RCV000492557 SCV000580835 pathogenic Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing The c.1060_1061delCA pathogenic mutation, located in coding exon 11 of the RB1 gene, results from a deletion of two nucleotides at positions 1060 and 1061, causing a translational frameshift with a predicted alternate stop codon. This mutation was previously identified in one study in one individual with retinoblastoma. Of note, this study refersto this alteration as 1195delAC(Richter S, Am. J. Hum. Genet. 2003 Feb; 72(2):253-69). In addition the clinical data presented in the literature, since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Labcorp Genetics (formerly Invitae), Labcorp RCV000114720 SCV001226958 pathogenic Retinoblastoma 2019-02-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 been observed in individuals affected with retinoblastoma (PMID: 12541220, 15605413). This variant is also known as 1195delAC, g.65374_65375delCA in the literature. ClinVar contains an entry for this variant (Variation ID: 126828). This sequence change creates a premature translational stop signal (p.Gln354Glufs*7) in the RB1 gene. It is expected to result in an absent or disrupted protein product.

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