ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1166A>G (p.His389Arg)

gnomAD frequency: 0.00006  dbSNP: rs782618362
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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, Fulgent Genetics RCV000801598 SCV002786126 uncertain significance Dilated cardiomyopathy 1JJ 2021-09-08 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.