ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2353A>C (p.Ile785Leu)

dbSNP: rs2138345573
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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 RCV001955048 SCV002211529 uncertain significance Retinoblastoma 2021-06-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 785 of the RB1 protein (p.Ile785Leu). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and leucine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RB1-related conditions.
Ambry Genetics RCV004042880 SCV005034496 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-04 criteria provided, single submitter clinical testing The p.I785L variant (also known as c.2353A>C), located in coding exon 23 of the RB1 gene, results from an A to C substitution at nucleotide position 2353. The isoleucine at codon 785 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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