ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.7015C>T (p.His2339Tyr)

gnomAD frequency: 0.00001  dbSNP: rs183326303
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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 RCV005104371 SCV005763235 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003400461 SCV004104004 uncertain significance EP300-related disorder 2024-05-23 no assertion criteria provided clinical testing The EP300 c.7015C>T variant is predicted to result in the amino acid substitution p.His2339Tyr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.043% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be benign, 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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