ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter)

dbSNP: rs796052820
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188375 SCV000241987 pathogenic not provided 2025-01-24 criteria provided, single submitter clinical testing De novo variant with or without confirmed parentage in patients with epilepsy previously tested at GeneDx (PMID: 29655203); 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: 29655203)
Labcorp Genetics (formerly Invitae), Labcorp RCV003621515 SCV004551796 pathogenic Developmental and epileptic encephalopathy, 9 2023-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln619*) 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 epilepsy and neurodevelopmental disorder (PMID: 29655203). ClinVar contains an entry for this variant (Variation ID: 206338). For these reasons, this variant has been classified as Pathogenic.

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