ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1540A>G (p.Met514Val)

gnomAD frequency: 0.00006  dbSNP: rs765266179
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002520051 SCV000660425 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-12-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694680 SCV005194490 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003409548 SCV004106948 uncertain significance EP300-related disorder 2024-07-29 no assertion criteria provided clinical testing The EP300 c.1540A>G variant is predicted to result in the amino acid substitution p.Met514Val. To our knowledge, this variant has not been reported in individuals with EP300-related disorders in the literature. This variant is reported in 0.035% of alleles in individuals of East Asian descent in gnomAD, which is likely too common to be a fully penetrant cause of disease. Although we suspect 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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