Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188402 | SCV000242014 | uncertain significance | not specified | 2014-08-12 | criteria provided, single submitter | clinical testing | The c.199_207delTCGGCTCCA variant and the c.218insG variants are found in cis in the PCDH19 gene. Together, these variants (aka c.199_218del20ins12) cause a frameshift starting with codon Serine 67, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Ser67HisfsX19. This is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although neither of these variants have been seen independently or in cis, their presence on the same allele is consistent with a diagnosis of a PCDH19-related disorder.The variant is found in EPILEPSY panel(s). |