Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188386 | SCV000241998 | pathogenic | not provided | 2014-01-17 | criteria provided, single submitter | clinical testing | This variant is denoted c.524delG: p.Gly175AlafsX37 (G175AfsX37) in exon 1 of the PCDH19 gene (NM_001105243.1). The normal sequence with the base that is deleted in braces is: TTCG{G}CCTG. The c.524delG mutation in the PCDH19 gene causes a frameshift starting with codon Glycine 175, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 37 of the new reading frame, denoted p.Gly175AlafsX37. 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 EPILEPSY panel(s). |