ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1073G>A (p.Arg358Gln)

gnomAD frequency: 0.00001  dbSNP: rs767011440
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469444 SCV000551799 benign Retinoblastoma 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418415 SCV002720187 likely benign Hereditary cancer-predisposing syndrome 2023-10-07 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.
GeneDx RCV003318582 SCV004023154 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
All of Us Research Program, National Institutes of Health RCV000469444 SCV004844647 uncertain significance Retinoblastoma 2023-10-30 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 358 of the RB1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RB1-related disorders in the literature. This variant has been identified in 4/282512 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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