ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1582G>A (p.Glu528Lys)

gnomAD frequency: 0.00001  dbSNP: rs782385471
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822678 SCV000963488 uncertain significance Dilated cardiomyopathy 1JJ 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 521 of the LAMA4 protein (p.Glu521Lys). This variant is present in population databases (rs782385471, gnomAD 0.003%). 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: 664563). 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.
Ambry Genetics RCV002397727 SCV002704967 uncertain significance Cardiovascular phenotype 2023-10-19 criteria provided, single submitter clinical testing The p.E521K variant (also known as c.1561G>A), located in coding exon 12 of the LAMA4 gene, results from a G to A substitution at nucleotide position 1561. The glutamic acid at codon 521 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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 RCV000822678 SCV002782856 uncertain significance Dilated cardiomyopathy 1JJ 2021-10-08 criteria provided, single submitter clinical testing
GeneDx RCV004761831 SCV005369569 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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