ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1655G>A (p.Arg552Gln)

gnomAD frequency: 0.00001  dbSNP: rs146236493
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000983840 SCV001131872 likely benign Retinoblastoma 2024-01-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258081 SCV002530800 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-30 criteria provided, single submitter curation
Ambry Genetics RCV002258081 SCV002706022 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-01 criteria provided, single submitter clinical testing The p.R552Q variant (also known as c.1655G>A), located in coding exon 17 of the RB1 gene, results from a G to A substitution at nucleotide position 1655. The arginine at codon 552 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV000983840 SCV004844689 uncertain significance Retinoblastoma 2023-12-01 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 552 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 1/250472 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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