ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2002C>A (p.Arg668Ser)

dbSNP: rs369755801
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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 RCV001014055 SCV001174714 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-26 criteria provided, single submitter clinical testing The p.R668S variant (also known as c.2002C>A), located in coding exon 20 of the RB1 gene, results from a C to A substitution at nucleotide position 2002. The arginine at codon 668 is replaced by serine, an amino acid with dissimilar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001316503 SCV001507128 uncertain significance Retinoblastoma 2021-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 668 of the RB1 protein (p.Arg668Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RB1-related conditions. 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. 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.
Baylor Genetics RCV004569925 SCV005054119 uncertain significance Malignant tumor of urinary bladder 2024-03-06 criteria provided, single submitter clinical testing

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