Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000057304 | SCV000680667 | pathogenic | not provided | 2018-01-22 | criteria provided, single submitter | clinical testing | The Q493X variant in the LMNA gene has been reported in a German individual with adult onset proximal spinal muscular atrophy (SMA) and subsequent cardiac involvement who had a family history of similar features which was consistent with autosomal dominant inheritance (Rudnik-Schöneborn et al., 2007). The Q493X pathogenic variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the LMNA gene have been reported in Human Gene Mutation Database in association with LMNA-related disorders (Stenson et al., 2014). Furthermore, the Q493X variant is not observed in large population cohorts (Lek et al., 2016). |
OMIM | RCV000015609 | SCV000035874 | pathogenic | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2007-04-01 | no assertion criteria provided | literature only | |
Epithelial Biology; Institute of Medical Biology, |
RCV000057304 | SCV000088417 | not provided | not provided | no assertion provided | not provided |