ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.752G>A (p.Arg251Gln)

gnomAD frequency: 0.00001  dbSNP: rs772678500
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697570 SCV000826190 likely benign Retinoblastoma 2024-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763899 SCV000894835 uncertain significance Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388279 SCV002675133 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-21 criteria provided, single submitter clinical testing The p.R251Q variant (also known as c.752G>A), located in coding exon 8 of the RB1 gene, results from a G to A substitution at nucleotide position 752. The arginine at codon 251 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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 RCV000697570 SCV004844628 uncertain significance Retinoblastoma 2023-06-08 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 251 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 not been reported in individuals affected with RB1-related disorders in the literature. This variant has been identified in 1/251134 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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