ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter)

dbSNP: rs749662385
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815526 SCV000955985 pathogenic Developmental and epileptic encephalopathy, 9 2018-10-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr585*) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PCDH19-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371).

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