Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520584 | SCV000621770 | uncertain significance | not provided | 2023-02-06 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Ambry Genetics | RCV002376971 | SCV002683388 | uncertain significance | Cardiovascular phenotype | 2021-11-18 | criteria provided, single submitter | clinical testing | The p.G290R variant (also known as c.868G>A), located in coding exon 7 of the LAMA4 gene, results from a G to A substitution at nucleotide position 868. The glycine at codon 290 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
Invitae | RCV002525249 | SCV003494520 | uncertain significance | Dilated cardiomyopathy 1JJ | 2023-09-25 | criteria provided, single submitter | clinical testing | 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 452921). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs375305822, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 290 of the LAMA4 protein (p.Gly290Arg). |