ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1707A>T (p.Leu569Phe)

dbSNP: rs3092895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071312 SCV001236607 uncertain significance Retinoblastoma 2019-11-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 569 of the RB1 protein (p.Leu569Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333).

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