Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188392 | SCV000242004 | pathogenic | not provided | 2012-04-23 | criteria provided, single submitter | clinical testing | This variant is denoted c.1308delC: p.Lys437SerfsX132 (K437SfsX132) in exon 1 of the PCDH19 gene (NM_001105243.1). The c.1308delC mutation in the PCDH19 gene causes a frameshift starting with codon Lysine 437, changes this amino acid to a Serine residue and creates a premature Stop codon at position 137 of the new reading frame, denoted p.Lys437SerfsX132. 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 INFANT-EPI panel(s). |