Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801598 | SCV000941380 | uncertain significance | Dilated cardiomyopathy 1JJ | 2023-01-28 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 647160). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 31983221). This variant is present in population databases (rs782618362, gnomAD 0.02%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 382 of the LAMA4 protein (p.His382Arg). |
Ambry Genetics | RCV002458468 | SCV002613416 | uncertain significance | Cardiovascular phenotype | 2023-03-18 | criteria provided, single submitter | clinical testing | The p.H382R variant (also known as c.1145A>G), located in coding exon 9 of the LAMA4 gene, results from an A to G substitution at nucleotide position 1145. The histidine at codon 382 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, arginine is the reference amino acid in other 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. |
Fulgent Genetics, |
RCV000801598 | SCV002786126 | uncertain significance | Dilated cardiomyopathy 1JJ | 2021-09-08 | criteria provided, single submitter | clinical testing |