Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147019 | SCV000194359 | likely pathogenic | Lissencephaly due to LIS1 mutation | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000484701 | SCV000571159 | likely pathogenic | not provided | 2017-02-27 | criteria provided, single submitter | clinical testing | A published E41K variant that is likely pathogenic has been identified in the PAFAH1B1 gene. The E41K variant has been reported previously in an individual with lissencephaly (Mei et al., 2008). It was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E41K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Service de Génétique Moléculaire, |
RCV000147019 | SCV001432323 | likely pathogenic | Lissencephaly due to LIS1 mutation | no assertion criteria provided | clinical testing |