Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579326 | SCV000680538 | pathogenic | not provided | 2021-06-09 | 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: 10797421, 25525159, 19641926, 9195224, 27535533) |
Labcorp Genetics |
RCV001044106 | SCV001207882 | pathogenic | Spastic paraplegia | 2019-12-27 | criteria provided, single submitter | clinical testing | Loss-of-function variants in L1CAM are known to be pathogenic (PMID: 19846429). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individuals affected with L1CAM-related conditions (PMID: 9195224, 19641926, 10797421). ClinVar contains an entry for this variant (Variation ID: 488700). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg558*) in the L1CAM gene. It is expected to result in an absent or disrupted protein product. |
DASA | RCV002298692 | SCV002588757 | pathogenic | MASA syndrome | 2022-11-03 | criteria provided, single submitter | clinical testing | The c.1672C>T;p.(Arg558*) variant creates a premature translational stop signal in the L1CAM gene. It is expected to result in an absent or disrupted protein product - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 488700; PMID: 19641926; 9300653; 10797421; 9195224) - PS4. This variant is not present in population databases (rs1557091773, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic. |