ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) (rs779543207)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000378811 SCV000438886 uncertain significance Rubinstein-Taybi syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501816 SCV000594555 uncertain significance not specified 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV000812511 SCV000952826 uncertain significance Rubinstein-Taybi syndrome 2; Colorectal cancer 2018-07-11 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 2176 of the EP300 protein (p.Pro2176Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs779543207, ExAC 0.003%). This variant has not been reported in the literature in individuals with EP300-related disease. ClinVar contains an entry for this variant (Variation ID: 341825). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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