Total submissions: 3
| 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 | |
| Ambry Genetics | RCV004025015 | SCV005018412 | uncertain significance | Cardiovascular phenotype | 2023-10-31 | criteria provided, single submitter | clinical testing | The p.R1559* variant (also known as c.4675C>T), located in coding exon 33 of the LAMA4 gene, results from a C to T substitution at nucleotide position 4675. This changes the amino acid from an arginine to a stop codon within coding exon 33. This alteration is expected to result in protein truncation or nonsense-mediated mRNA decay. However, loss of function of LAMA4 has not been established as a mechanism of disease. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |