ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter)

dbSNP: rs1057521256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514200 SCV000610316 likely pathogenic not provided 2017-05-03 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660226 SCV000782227 likely pathogenic Developmental and epileptic encephalopathy, 9 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660226 SCV001396504 pathogenic Developmental and epileptic encephalopathy, 9 2022-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr605*) 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). ClinVar contains an entry for this variant (Variation ID: 445698). For these reasons, this variant has been classified as Pathogenic.

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