ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs)

dbSNP: rs796052828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188388 SCV000242000 pathogenic not provided 2012-06-11 criteria provided, single submitter clinical testing This variant is denoted c.1059_1062delTGAG: p.Glu354LeufsX13 (p.E354LfsX13) in exon 1 of the PCDH19 gene (NM_001105243.1). The c.1059_1062delTGAG mutation in the PCDH19 gene causes a frameshift starting with codon Glutamic acid 354, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Glu354LeufsX13. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of epilepsy and mental retardation limited to females (EFMR). The variant is found in CHILD-EPI panel(s).
Invitae RCV000533782 SCV000640253 pathogenic Developmental and epileptic encephalopathy, 9 2019-03-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). This variant has not been reported in the literature in individuals with PCDH19-related disease. ClinVar contains an entry for this variant (Variation ID: 206351). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu354Leufs*13) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product.

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