ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) (rs1057517732)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624116 SCV000740761 uncertain significance Inborn genetic diseases 2017-10-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
GeneDx RCV000414599 SCV000490524 pathogenic not provided 2016-12-09 criteria provided, single submitter clinical testing A pathogenic variant has been identified in the EP300 gene. The F1595V variant has been identified as a de novo variant with confirmed parentage in multiple unrelated individuals with developmental delay and dysmorphic features who were previously tested at GeneDx. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The F1595V variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts the F1595V variant is probably damaging to the protein structure/function. Therefore, the presence of this pathogenic variant is consistent with a diagnosis of Rubinstein-Taybi syndrome
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000433095 SCV000803699 pathogenic Rubinstein-Taybi syndrome 2 2017-12-11 no assertion criteria provided clinical testing
OMIM RCV000433095 SCV000513410 pathogenic Rubinstein-Taybi syndrome 2 2017-03-03 no assertion criteria provided literature only
SickKids Clinical Genetics Group,The Hospital for Sick Children RCV000509054 SCV000606780 not provided Multiple congenital anomalies no assertion provided clinical testing

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