Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002541647 | SCV002934721 | uncertain significance | Spastic paraplegia | 2022-09-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1197 of the L1CAM protein (p.Gly1197Arg). This variant is present in population databases (rs781814421, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with L1CAM-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on L1CAM protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Service de Génétique Moléculaire, |
RCV001270392 | SCV001450675 | uncertain significance | MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome | 2020-09-01 | no assertion criteria provided | clinical testing |