ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.952C>G (p.Pro318Ala)

gnomAD frequency: 0.00003  dbSNP: rs762647727
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203150 SCV000257891 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517348 SCV001505849 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-12-13 criteria provided, single submitter clinical testing
GeneDx RCV001550918 SCV001771323 likely benign not provided 2019-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001550918 SCV004701583 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing EP300: BP4
PreventionGenetics, part of Exact Sciences RCV003417733 SCV004107880 uncertain significance EP300-related disorder 2024-03-24 no assertion criteria provided clinical testing The EP300 c.952C>G variant is predicted to result in the amino acid substitution p.Pro318Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-41523536-C-G). 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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