Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000608092 | SCV000731407 | uncertain significance | not specified | 2017-01-20 | criteria provided, single submitter | clinical testing | The p.Arg1559X variant in LAMA4 has not been previously reported in individuals with cardiomyopathy or in large population studies. This nonsense variant leads to a premature termination codon at position 1559, which is predicted to lead to a truncated or absent protein. The pathogenic variant spectrum of LAMA4 is not well understood and it is unclear if loss of function is disease causing. As a r esult, the clinical significance of the p.Arg1559X variant is uncertain. |
Fulgent Genetics, |
RCV002506488 | SCV002814472 | uncertain significance | Dilated cardiomyopathy 1JJ | 2021-08-11 | criteria provided, single submitter | clinical testing |