ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1731G>C (p.Lys577Asn)

dbSNP: rs1949337837
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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 RCV001321020 SCV001511833 uncertain significance Retinoblastoma 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 577 of the RB1 protein (p.Lys577Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1021284). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Ambry Genetics RCV003339597 SCV004058266 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-13 criteria provided, single submitter clinical testing The p.K577N variant (also known as c.1731G>C), located in coding exon 18 of the RB1 gene, results from a G to C substitution at nucleotide position 1731. The lysine at codon 577 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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