ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3905dup (p.Glu1303fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV001171509 SCV001244955 pathogenic Rubinstein-Taybi syndrome 2 2020-02-19 criteria provided, single submitter clinical testing The heterozygous insertion of the base thymine at position 41564482 on chromosome 22 was carried out with a coverage of 286 reads and an alternative allele frequency of 0.42 only in the above Patient observed and is thus interpreted as a new mutation. The variant c.3905dupT in exon 24 of the gene EP300 results in a reading frame shift from position 1303 with exchange of the sequence of six amino acid sequence Glu-Asn-Arg-Val-Asn-Asp to Arg-Glu-Ser-Cys-Glu followed by a stop codon. MutationTaster classifies this variant as pathogenic. According to ACMG guidelines, the variant c.3905dupT classified as pathogenic. Classification according to ACMG guidelines: PVS1: reading frame shift with stop mutation in a gene for which pathogenic new mutations are known to cause disease for Rubinstein-Taybi syndrome. PM1: The variant is particularly close to 18 other pathogenic variants. PM2: The variant was not found in any population genetic studies (such as GnomAD, Iranome, GME, 1kGP, etc.) identified. PS2: Potential new mutation (pending independent validation). PP3: Bioinformatic prediction programs classify this variant as pathogenic.

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