Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223064 | SCV000271236 | likely pathogenic | Laminopathy | 2015-11-11 | criteria provided, single submitter | clinical testing | The p.Asp370Glu variant in LMNA has been identified by our laboratory in 1 indiv idual with muscle weakness and progressive contractures, and occurred de novo. T his variant was absent from large population studies. Computational prediction t ools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional studies are required to fully establish its clinic al significance, the p.Asp370Glu variant is likely pathogenic. |