Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cardiovascular Medicine, |
RCV000984808 | SCV000996024 | pathogenic | Dilated cardiomyopathy 1A | 2019-06-24 | criteria provided, single submitter | clinical testing | A proband (female) who suffered from atrial fibrillation and bradycardia, was implanted with a pacemaker in her fifties. Twenty years later, she experienced a loss of consciousness due to polymorphic ventricular tachycardia. The proband had a serious family history; her mother and elder sister died suddenly in their fifties and sixties, respectively, and her nephew and son were diagnosed as having dilated cardiomyopathy. Genetic screening of the proband, her son, and nephew identified a nonsense mutation (c.475G>T, p.E159*) in the LMNA gene. |
Invitae | RCV001068018 | SCV001233105 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2021-03-07 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with clinical features of dilated cardiomyopathy (PMID: 31847799). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 694069). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu159*) 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). |