ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2360G>A (p.Arg787Gln)

gnomAD frequency: 0.00006  dbSNP: rs748094394
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455977 SCV000540159 uncertain significance not specified 2016-06-16 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Only 1 report
Invitae RCV000459571 SCV000551838 benign Retinoblastoma 2023-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566207 SCV000674715 likely benign Hereditary cancer-predisposing syndrome 2019-06-17 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.
Mendelics RCV000459571 SCV000838926 uncertain significance Retinoblastoma 2018-07-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000859119 SCV001150633 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000459571 SCV004844735 uncertain significance Retinoblastoma 2023-12-13 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 787 of the RB1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with retinoblastoma but also in unaffected relatives (PMID: 15605413, 16269091). This variant has been identified in 16/282566 chromosomes 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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