ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4188_4189insCCTATGTATATCTCCTATACATATCTCCTATCGAACA (p.Tyr1397fs) (rs1064794624)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487041 SCV000569597 pathogenic not provided 2016-03-10 criteria provided, single submitter clinical testing The c.4188_4189ins37 pathogenic variant in the EP300 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4188_4189ins37 variant causes a frameshift starting with codon Tyrosine 1397, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Tyr1397ProfsX16. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4188_4189ins37 variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.4188_4189ins37 as a pathogenic variant.

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