ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4642G>C (p.Ala1548Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004723682 SCV005329314 uncertain significance Menke-Hennekam syndrome 2 2023-05-20 criteria provided, single submitter clinical testing The observed missense variant c.4642G>C(p.Ala1548Pro) in EP300 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4642G>C variant is absent in gnomAD Exomes. The amino acid Alanine at position 1548 is changed to a Proline changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen, SIFT and Mutation Taster) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Ala1548Pro in EP300 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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