ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1632A>T (p.Arg544Ser)

dbSNP: rs143948310
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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 RCV001241709 SCV001414746 uncertain significance Retinoblastoma 2021-08-18 criteria provided, single submitter clinical testing This variant is present in population databases (rs143948310, ExAC 0.01%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RB1-related conditions. This sequence change replaces arginine with serine at codon 544 of the RB1 protein (p.Arg544Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine.

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