ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2188C>T (p.Arg730Cys)

gnomAD frequency: 0.00001  dbSNP: rs782482395
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
GeneDx RCV000522246 SCV000619418 uncertain significance not provided 2024-01-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000794780 SCV000934210 uncertain significance Dilated cardiomyopathy 1JJ 2022-08-09 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 450799). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs782482395, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 723 of the LAMA4 protein (p.Arg723Cys).
Ambry Genetics RCV004639265 SCV005134488 uncertain significance Cardiovascular phenotype 2025-01-21 criteria provided, single submitter clinical testing The p.R723C variant (also known as c.2167C>T), located in coding exon 17 of the LAMA4 gene, results from a C to T substitution at nucleotide position 2167. The arginine at codon 723 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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.