Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188394 | SCV000242006 | pathogenic | not provided | 2014-02-03 | criteria provided, single submitter | clinical testing | This variant is denoted c.1752_1759delCTACCTGG: p.Tyr585AspfsX10 (Y585DfsX10) in exon 1 of the PCDH19 gene (NM_001105243.1). The c.1752_1759delCTACCTGG mutation in the PCDH19 gene causes a frameshift starting with codon Tyrosine 585, changes this amino acid to an Aspartic acid residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Tyr585AspfsX10. 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). |