ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1145del (p.Gly382fs)

dbSNP: rs1928406047
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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 RCV001220917 SCV001392930 pathogenic Developmental and epileptic encephalopathy, 9 2019-06-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). This variant has not been reported in the literature in individuals with PCDH19-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly382Aspfs*187) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product.

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