Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147058 | SCV000596199 | pathogenic | Lissencephaly due to LIS1 mutation | 2013-12-31 | no assertion criteria provided | clinical testing | DNA sequence analysis of the PAFAH1B1 gene demonstrated a one base pair duplication in exon 8, c.716dup. This pathogenic sequence change results in an amino acid frameshift and creates a premature stop codon 16 amino acids downstream of the mutation, p.Met239Ilefs*17. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated PAFAH1B1 protein with potentially abnormal function. |