Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653920 | SCV000775810 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2017-11-30 | criteria provided, single submitter | clinical testing | Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with LMNA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg331Glyfs*94) in the LMNA gene. It is expected to result in an absent or disrupted protein product. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170980 | SCV001333640 | likely pathogenic | Cardiomyopathy | 2017-11-28 | criteria provided, single submitter | clinical testing |