ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr)

dbSNP: rs587784300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147085 SCV000194437 uncertain significance Developmental and epileptic encephalopathy, 9 2013-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000490161 SCV000577673 uncertain significance not provided 2020-02-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported previously as an inherited variant in two unrelated patients with epilepsy (Farnaes et al., 2018; Zhu et al., 2017); This variant is associated with the following publications: (PMID: 29644095, 29186148, 30582250, 31019026)

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