ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1468G>A (p.Ala490Thr) (rs201458896)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462974 SCV000551801 uncertain significance Retinoblastoma 2016-10-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 490 of the RB1 protein (p.Ala490Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs201458896, ExAC 0.03%). This variant has been reported in the literature in an individual affected with retinoblastoma (PMID: 14791139). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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