ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1196_1197del (p.Glu398_Tyr399insTer)

dbSNP: rs2520984807
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003509868 SCV004248409 pathogenic Developmental and epileptic encephalopathy, 9 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr399*) 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 epilepsy (PMID: 28690234). For these reasons, this variant has been classified as Pathogenic.

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