ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2399del (p.Asn800fs)

dbSNP: rs796052836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188397 SCV000242009 pathogenic not provided 2013-09-17 criteria provided, single submitter clinical testing This variant is denoted c.2258delA: p.Asn753ThrfsX8 (N753Tfsx8) in exon 2 of the PCDH19 gene (NM_001105243.1).The normal sequence with the base that is deleted in braces is: ATGA{A}CGTT. The c.2258delA mutation in the PCDH19 gene causes a frameshift starting with codon Asparagine 753, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Asn753ThrfsX8. 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 a PCDH19-related disorder. The variant is found in INFANT-EPI panel(s).
Genetic Services Laboratory, University of Chicago RCV000192451 SCV000248446 pathogenic Developmental and epileptic encephalopathy, 9 2015-03-19 criteria provided, single submitter clinical testing

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