ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter)

dbSNP: rs587784295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806933 SCV000946956 pathogenic Developmental and epileptic encephalopathy, 9 2018-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr516*) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PCDH19-related disease. Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). For these reasons, this variant has been classified as Pathogenic.
GenomeConnect - Invitae Patient Insights Network RCV000806933 SCV001749691 not provided Developmental and epileptic encephalopathy, 9 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 10-21-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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