ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.69GCC[3] (p.Pro29del)

dbSNP: rs587778823
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Total submissions: 4
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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 RCV000474548 SCV000087341 likely benign Retinoblastoma 2024-05-20 criteria provided, single submitter clinical testing Case and Pedigree Information: BILATERAL CASES:0, UNILATERAL CASES:1, TOTAL CASES:1, PEDIGREES:1. ACMG Codes Applied:PM2, BP3, BP6
Invitae RCV000474548 SCV000551837 likely benign Retinoblastoma 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564121 SCV000674726 likely benign Hereditary cancer-predisposing syndrome 2021-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV000474548 SCV004846299 uncertain significance Retinoblastoma 2023-11-30 criteria provided, single submitter clinical testing This variant is an in-frame deletion of proline at amino acid 29 in the the RB1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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