ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.547A>G (p.Thr183Ala)

gnomAD frequency: 0.00006  dbSNP: rs782667094
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620215 SCV000736898 uncertain significance Cardiovascular phenotype 2023-01-01 criteria provided, single submitter clinical testing The p.T183A variant (also known as c.547A>G), located in coding exon 5 of the LAMA4 gene, results from an A to G substitution at nucleotide position 547. The threonine at codon 183 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine 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.
Invitae RCV000651436 SCV000773287 uncertain significance Dilated cardiomyopathy 1JJ 2023-12-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 183 of the LAMA4 protein (p.Thr183Ala). This variant is present in population databases (rs782667094, gnomAD 0.005%). 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: 519024). 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. 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.
GeneDx RCV001529542 SCV001787966 uncertain significance not provided 2019-11-13 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# 519024; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529542 SCV001743152 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529542 SCV001957541 uncertain significance not provided no assertion criteria provided clinical testing

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