ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.572G>A (p.Gly191Glu)

gnomAD frequency: 0.00003  dbSNP: rs782010849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769206 SCV000900582 uncertain significance Cardiomyopathy 2015-11-06 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000769206 SCV000995763 likely benign Cardiomyopathy 2019-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001312249 SCV001502691 uncertain significance Dilated cardiomyopathy 1JJ 2023-07-17 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 626481). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs782010849, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 191 of the LAMA4 protein (p.Gly191Glu).
Ambry Genetics RCV004027218 SCV005018080 uncertain significance Cardiovascular phenotype 2023-11-22 criteria provided, single submitter clinical testing The p.G191E variant (also known as c.572G>A), located in coding exon 5 of the LAMA4 gene, results from a G to A substitution at nucleotide position 572. The glycine at codon 191 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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