ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.7193A>T (p.Asp2398Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004759454 SCV005373297 uncertain significance not provided 2024-04-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004740145 SCV005359377 uncertain significance EP300-related disorder 2024-01-04 no assertion criteria provided clinical testing The EP300 c.7193A>T variant is predicted to result in the amino acid substitution p.Asp2398Val. 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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