Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000276564 | SCV000329812 | pathogenic | not provided | 2016-09-26 | criteria provided, single submitter | clinical testing | The R113X nonsense variant in the PAFAH1B1 gene has been reported previously in an individual with lissencephaly (Saillour et al., 2009). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
Ce |
RCV000276564 | SCV001248770 | pathogenic | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000276564 | SCV003443719 | pathogenic | not provided | 2022-11-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 280047). This premature translational stop signal has been observed in individual(s) with lissencephaly (PMID: 19667223). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg113*) 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). |
Institute of Human Genetics, |
RCV003448294 | SCV004176015 | pathogenic | Lissencephaly due to LIS1 mutation | 2023-11-07 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PS2_MOD,PS4_MOD,PM2_SUP |