ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter)

dbSNP: rs1555985427
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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 RCV000518268 SCV000614422 pathogenic not provided 2017-02-16 criteria provided, single submitter clinical testing
Invitae RCV001383904 SCV001583230 pathogenic Developmental and epileptic encephalopathy, 9 2023-11-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu287*) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of PCDH19-related conditions (PMID: 19214208). ClinVar contains an entry for this variant (Variation ID: 447921). For these reasons, this variant has been classified as Pathogenic.

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