ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) (rs1239794408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518719 SCV000614411 pathogenic not provided 2017-01-13 criteria provided, single submitter clinical testing
Invitae RCV001217491 SCV001389333 pathogenic Early infantile epileptic encephalopathy 9 2019-08-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr366*) 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 been observed in an individual affected with epilepsy (PMID: 25499160). ClinVar contains an entry for this variant (Variation ID: 447915). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). For these reasons, this variant has been classified as Pathogenic.

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