Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Blueprint Genetics | RCV000208231 | SCV000263995 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2015-06-25 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001853307 | SCV002181896 | uncertain significance | Dilated cardiomyopathy 1JJ | 2023-10-12 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1181 of the LAMA4 protein (p.Leu1181Arg). This variant is present in population databases (rs782291756, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 222683). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV003165508 | SCV003910272 | uncertain significance | Cardiovascular phenotype | 2022-12-25 | criteria provided, single submitter | clinical testing | The p.L1181R variant (also known as c.3542T>G), located in coding exon 26 of the LAMA4 gene, results from a T to G substitution at nucleotide position 3542. The leucine at codon 1181 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |