ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1892A>G (p.Gln631Arg)

dbSNP: rs1593532019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013591 SCV001174199 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-23 criteria provided, single submitter clinical testing The p.Q631R variant (also known as c.1892A>G), located in coding exon 19 of the RB1 gene, results from an A to G substitution at nucleotide position 1892. The glutamine at codon 631 is replaced by arginine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860744 SCV002183951 uncertain significance Retinoblastoma 2021-01-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 820290). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 631 of the RB1 protein (p.Gln631Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.
Baylor Genetics RCV003467612 SCV004208511 uncertain significance Malignant tumor of urinary bladder 2023-09-01 criteria provided, single submitter clinical testing

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