ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6786G>C (p.Gln2262His)

dbSNP: rs2059217082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331933 SCV001524100 uncertain significance Menke-Hennekam syndrome 2 2020-04-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003320825 SCV004025344 uncertain significance not provided 2023-02-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV005057280 SCV005712169 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-05-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 2262 of the EP300 protein (p.Gln2262His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EP300-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030398). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EP300 protein function with a negative predictive value of 80%. 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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