ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1541G>A (p.Arg514Gln)

gnomAD frequency: 0.00014  dbSNP: rs146358872
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651443 SCV000773294 uncertain significance Dilated cardiomyopathy 1JJ 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 507 of the LAMA4 protein (p.Arg507Gln). This variant is present in population databases (rs146358872, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 541226). 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. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000651443 SCV001471593 uncertain significance Dilated cardiomyopathy 1JJ 2019-08-01 criteria provided, single submitter clinical testing The LAMA4 c.1520G>A; p.Arg507Gln variant (rs146358872), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 541226). This variant is found in the African population with an overall allele frequency of 0.04% (10/24968 alleles) in the Genome Aggregation Database. The arginine at codon 507 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Arg507Gln variant is uncertain at this time.
GeneDx RCV001756094 SCV001996730 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 541226; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002388138 SCV002708167 uncertain significance Cardiovascular phenotype 2021-11-24 criteria provided, single submitter clinical testing The p.R507Q variant (also known as c.1520G>A), located in coding exon 11 of the LAMA4 gene, results from a G to A substitution at nucleotide position 1520. The arginine at codon 507 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, glutamine 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 RCV000651443 SCV002794059 uncertain significance Dilated cardiomyopathy 1JJ 2021-07-13 criteria provided, single submitter clinical testing

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