Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147022 | SCV000194362 | pathogenic | Lissencephaly due to LIS1 mutation | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515970 | SCV003342849 | pathogenic | not provided | 2022-04-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu51Trpfs*18) in the PAFAH1B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAFAH1B1 are known to be pathogenic (PMID: 1671808, 11115846, 14581661). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PAFAH1B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 159506). For these reasons, this variant has been classified as Pathogenic. |