Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041366 | SCV000065059 | likely pathogenic | Primary dilated cardiomyopathy | 2012-09-26 | criteria provided, single submitter | clinical testing | The Glu262X variant in LMNA has not been reported in the literature nor previous ly identified by our laboratory. This variant has not been identified in large a nd broad European American and African American populations by NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS). This nonsense variant leads to a premature termination codon at position 262, which is predicted to lead to a truncated or absent protein. Variants in LMNA have been identified in a range of disorders including dilated cardiomyopathy with or without conduction system di sease and/or skeletal myopathy and other variants resulting in a loss of functio n of the LMNA gene are established pathogenic variants. In summary, this variant is likely to be pathogenic, but additional studies are needed to fully establis h its clinical significance. |
Invitae | RCV003581570 | SCV004308413 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2023-07-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 48081). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu262*) in the LMNA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). |