Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817263 | SCV000957813 | likely pathogenic | Spastic paraplegia | 2018-10-22 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in L1CAM are known to be pathogenic (PMID: 19846429). This variant has not been reported in the literature in individuals with L1CAM-related disease. This variant is not present in population databases (ExAC no frequency). This variant is a deletion of the genomic region encompassing part of exon 13 (c.1702_1703+14del) of the L1CAM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |