ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)

dbSNP: rs2517817737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003527141 SCV004291872 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-07-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 1291 of the EP300 protein (p.Lys1291Thr). This variant has not been reported in the literature in individuals affected with EP300-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.
Breakthrough Genomics, Breakthrough Genomics RCV004696550 SCV005194491 uncertain significance not provided criteria provided, single submitter not provided
3billion RCV004723372 SCV005328988 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

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