ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6435_6446dup (p.Gln2153_Leu2154insProGlnGlnGln)

gnomAD frequency: 0.00001  dbSNP: rs779096859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003408481 SCV004112369 uncertain significance EP300-related disorder 2022-10-12 criteria provided, single submitter clinical testing The EP300 c.6435_6446dup12 variant is predicted to result in an in-frame duplication (p.Pro2150_Gln2153dup). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-41574149-T-TGCCCCAGCAGCA). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003638950 SCV004517667 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-06-04 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. This variant has not been reported in the literature in individuals affected with EP300-related conditions. This variant is present in population databases (rs779096859, gnomAD 0.0009%). This variant, c.6435_6446dup, results in the insertion of 4 amino acid(s) of the EP300 protein (p.Pro2150_Gln2153dup), but otherwise preserves the integrity of the reading frame.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005399369 SCV006057515 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 2022-11-21 criteria provided, single submitter research

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