ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1669A>G (p.Ile557Val)

dbSNP: rs1948534909
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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 RCV002012959 SCV002291332 uncertain significance Retinoblastoma 2022-02-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 557 of the RB1 protein (p.Ile557Val). 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. 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. 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 RCV004045967 SCV005034582 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-05 criteria provided, single submitter clinical testing The p.I557V variant (also known as c.1669A>G), located in coding exon 17 of the RB1 gene, results from an A to G substitution at nucleotide position 1669. The isoleucine at codon 557 is replaced by valine, an amino acid with highly 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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