ClinVar Miner

Submissions for variant NM_001429.3(EP300):c.3857A>G (rs1555910821)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001260706 SCV001437798 pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Invitae RCV001382691 SCV001581591 pathogenic Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation; Rubinstein-Taybi syndrome 2 2020-03-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1286 of the EP300 protein (p.Asn1286Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Rubinstein–Taybi syndrome (PMID: 27648933, 27465822). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 378053). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000439427 SCV000513411 pathogenic Rubinstein-Taybi syndrome 2 2019-02-26 no assertion criteria provided literature only
Wessex Regional Genetics Laboratory,Salisbury District Hospital RCV000439427 SCV001189992 likely pathogenic Rubinstein-Taybi syndrome 2 2019-11-05 no assertion criteria provided clinical testing

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