Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000624376 | SCV000740351 | pathogenic | Primary familial dilated cardiomyopathy | 2017-02-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001070590 | SCV001235849 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2019-12-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). This variant has been observed in a family affected with atrial fibrillation (PMID: 27373676). ClinVar contains an entry for this variant (Variation ID: 520447). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp498*) in the LMNA gene. It is expected to result in an absent or disrupted protein product. |