Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000769203 | SCV000900579 | uncertain significance | Cardiomyopathy | 2020-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360874 | SCV002660562 | uncertain significance | Cardiovascular phenotype | 2022-10-05 | criteria provided, single submitter | clinical testing | The p.G218R variant (also known as c.652G>A), located in coding exon 5 of the LAMA4 gene, results from a G to A substitution at nucleotide position 652. The glycine at codon 218 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |