ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4999G>C (p.Val1667Leu)

dbSNP: rs2059201116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763588 SCV001997863 uncertain significance not provided 2019-10-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003401685 SCV004112275 uncertain significance EP300-related disorder 2023-06-02 criteria provided, single submitter clinical testing The EP300 c.4999G>C variant is predicted to result in the amino acid substitution p.Val1667Leu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant resides in exon 30 (NM_001429), which may be considered in the context of genotype/phenotype patterns reported for EP300 (see below). 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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