Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171980 | SCV000055154 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Ambry Genetics | RCV003165357 | SCV003896318 | uncertain significance | Cardiovascular phenotype | 2023-01-31 | criteria provided, single submitter | clinical testing | The p.D719V variant (also known as c.2156A>T), located in coding exon 17 of the LAMA4 gene, results from an A to T substitution at nucleotide position 2156. The aspartic acid at codon 719 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |