ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)

dbSNP: rs143660871
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990452 SCV001141443 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003638728 SCV004396862 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2022-10-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EP300-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1208 of the EP300 protein (p.Ile1208Met). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 803699). 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 expected to disrupt EP300 protein function. 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.
3billion RCV004726762 SCV005329087 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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