ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5966T>G (p.Met1989Arg)

gnomAD frequency: 0.00001  dbSNP: rs760421892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762076 SCV000892331 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Invitae RCV003638708 SCV004559372 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-05-11 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 623994). This variant has not been reported in the literature in individuals affected with EP300-related conditions. This variant is present in population databases (rs760421892, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1989 of the EP300 protein (p.Met1989Arg).
PreventionGenetics, part of Exact Sciences RCV003975310 SCV004793757 uncertain significance EP300-related condition 2023-10-30 criteria provided, single submitter clinical testing The EP300 c.5966T>G variant is predicted to result in the amino acid substitution p.Met1989Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-41573681-T-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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