ClinVar Miner

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

dbSNP: rs1060502175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475650 SCV000548728 pathogenic Developmental and epileptic encephalopathy, 9 2016-09-20 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 3 of the PCDH19 mRNA (c.2341delA), causing a frameshift at codon 781. This creates a premature translational stop signal (p.Ile781Serfs*19) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in PCDH19 are known to be pathogenic (PMID: 21053371). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000475650 SCV002790310 pathogenic Developmental and epileptic encephalopathy, 9 2022-03-06 criteria provided, single submitter clinical testing
GeneDx RCV003441876 SCV004170390 pathogenic not provided 2023-04-18 criteria provided, single submitter clinical testing Frameshift 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, 30287595, 34055682)

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