Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223332 | SCV000271239 | likely pathogenic | Primary dilated cardiomyopathy | 2015-05-14 | criteria provided, single submitter | clinical testing | The p.Glu159fs variant in LMNA has not been previously reported in individuals w ith cardiomyopathy or in large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 159 and leads to a premature termination codon 18 amino acids downstrea m. This alteration is then predicted to lead to a truncated or absent protein. H eterozygous loss of LMNA function is an established disease mechanism in individ uals with DCM +/- conduction system defects. In summary, although additional stu dies are required to fully establish its clinical significance, the p.Glu159fs v ariant is likely pathogenic. |