ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6142CAA[1] (p.Gln2049del)

dbSNP: rs2517834165
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003639529 SCV004393149 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-09-17 criteria provided, single submitter clinical testing This variant, c.6145_6147del, results in the deletion of 1 amino acid(s) of the EP300 protein (p.Gln2049del), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with EP300-related conditions. This variant is not present in population databases (gnomAD no frequency).
PreventionGenetics, part of Exact Sciences RCV004738817 SCV005343449 uncertain significance EP300-related disorder 2024-05-22 no assertion criteria provided clinical testing The EP300 c.6145_6147delCAA variant is predicted to result in an in-frame deletion (p.Gln2049del). To our knowledge, this variant has not been reported in the literature or 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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