ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)

dbSNP: rs1060502175
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990901 SCV001141954 pathogenic Developmental and epileptic encephalopathy, 9 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266326 SCV001444500 pathogenic Inborn genetic diseases 2019-06-20 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000990901 SCV002558965 pathogenic Developmental and epileptic encephalopathy, 9 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000990901 SCV004300137 pathogenic Developmental and epileptic encephalopathy, 9 2023-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile781Asnfs*3) 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 PCDH19-related conditions (PMID: 22946748, 32852734). ClinVar contains an entry for this variant (Variation ID: 804051). For these reasons, this variant has been classified as Pathogenic.

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