ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter)

dbSNP: rs1602637696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008024 SCV001167756 likely pathogenic not provided 2019-03-13 criteria provided, single submitter clinical testing The E189X variant has not been previously published as pathogenic or benign to our knowledge. The E189X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001089725 SCV001245212 pathogenic Developmental and epileptic encephalopathy, 9 2020-02-14 criteria provided, single submitter clinical testing

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