ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.679A>T (p.Lys227Ter)

dbSNP: rs1928440191
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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 RCV001242738 SCV001415846 pathogenic Developmental and epileptic encephalopathy, 9 2022-09-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This sequence change creates a premature translational stop signal (p.Lys227*) 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). ClinVar contains an entry for this variant (Variation ID: 967751). For these reasons, this variant has been classified as Pathogenic.

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