ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del)

dbSNP: rs1601642386
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990457 SCV001141449 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005056719 SCV005697593 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-07-10 criteria provided, single submitter clinical testing This variant, c.7014_7028del, results in the deletion of 5 amino acid(s) of the EP300 protein (p.His2338_Pro2342del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with EP300-related conditions (PMID: 31337854). ClinVar contains an entry for this variant (Variation ID: 803704). 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 RCV005056719 SCV005904757 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-11-15 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Inframe deletion located in a nonrepeat region: predicted to change the length of the protein and disrupt normal protein function. The variant has been reported to be associated with EP300 related disorder (PMID: 31337854). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.
PreventionGenetics, part of Exact Sciences RCV004740528 SCV005363691 uncertain significance EP300-related disorder 2024-09-05 no assertion criteria provided clinical testing The EP300 c.7014_7028del15 variant is predicted to result in an in-frame deletion (p.His2338_Pro2342del). This variant was reported in an individual with Cornelia de Lange syndrome (Aoi et al 2019. PubMed ID: 31337854). This variant has not been reported in a large population database, indicating this variant is rare. 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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