ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter)

dbSNP: rs769967221
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641139 SCV000762761 pathogenic Developmental and epileptic encephalopathy, 9 2022-12-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 533856). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of epilepsy (PMID: 22946748). This sequence change creates a premature translational stop signal (p.Arg395*) 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).
CeGaT Center for Human Genetics Tuebingen RCV001092884 SCV001249610 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000641139 SCV002765040 pathogenic Developmental and epileptic encephalopathy, 9 2022-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001092884 SCV005441358 pathogenic not provided 2024-06-24 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21053371, 31440721, 34145886, 22946748, 30451291)

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