ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser)

dbSNP: rs1555985142
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523094 SCV000619925 likely pathogenic not provided 2017-08-10 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the PCDH19 gene. The Y490S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. TheY490S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y490S 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 this variant is probably damaging to the protein structure/function. Therefore, we interpret Y490S as a likely pathogenic variant.
Neurogenetics Research Program, University of Adelaide RCV001199428 SCV001147062 likely pathogenic Glycine encephalopathy; Developmental and epileptic encephalopathy, 9 2019-12-20 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.