Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000008541 | SCV000194409 | pathogenic | Lissencephaly due to LIS1 mutation | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000255710 | SCV000322236 | pathogenic | not provided | 2021-06-28 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 11754098, 27535533, 29671837, 26494205, 11115846, 9063735, 25525159, 10583396) |
Ce |
RCV000255710 | SCV001249970 | pathogenic | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000008541 | SCV001950076 | pathogenic | Lissencephaly due to LIS1 mutation | 2021-07-21 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed). |
Invitae | RCV000255710 | SCV003443693 | pathogenic | not provided | 2022-10-26 | 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: 8074). This premature translational stop signal has been observed in individual(s) with lissencephaly (PMID: 9063735). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg273*) 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). |
OMIM | RCV000008541 | SCV000028749 | pathogenic | Lissencephaly due to LIS1 mutation | 1997-02-01 | no assertion criteria provided | literature only |