ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2375T>C (p.Phe792Ser)

dbSNP: rs2138345676
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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 RCV002040839 SCV002297808 uncertain significance Retinoblastoma 2021-03-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RB1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 792 of the RB1 protein (p.Phe792Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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