ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.169C>T (p.Gln57Ter)

dbSNP: rs1367823627
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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 RCV000516328 SCV000614414 pathogenic not provided 2016-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091194 SCV005757085 pathogenic Developmental and epileptic encephalopathy, 9 2024-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln57*) 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 variant has not been reported in the literature in individuals affected with PCDH19-related conditions. ClinVar contains an entry for this variant (Variation ID: 447917). For these reasons, this variant has been classified as Pathogenic.

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