ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2874dup (p.Ser959Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004385157 SCV004864314 pathogenic Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.2874dupT (p.S959*) alteration, located in exon 15 (coding exon 15) of the EP300 gene, consists of a duplication of T at position 2874. This changes the amino acid from a serine (S) to a stop codon at amino acid position 959. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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