ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2185A>G (p.Lys729Glu)

dbSNP: rs2138342593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001971758 SCV002264118 uncertain significance Retinoblastoma 2021-11-12 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 disruptive. This variant has not been reported in the literature in individuals affected with RB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 729 of the RB1 protein (p.Lys729Glu).
Ambry Genetics RCV004042351 SCV005034524 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-29 criteria provided, single submitter clinical testing The p.K729E variant (also known as c.2185A>G), located in coding exon 21 of the RB1 gene, results from an A to G substitution at nucleotide position 2185. The lysine at codon 729 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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