ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1808A>T (p.Glu603Val)

gnomAD frequency: 0.00002  dbSNP: rs781829812
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001210559 SCV001382053 uncertain significance Dilated cardiomyopathy 1JJ 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 596 of the LAMA4 protein (p.Glu596Val). This variant is present in population databases (rs781829812, gnomAD 0.002%). 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: 940882). 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.
Fulgent Genetics, Fulgent Genetics RCV001210559 SCV002789473 uncertain significance Dilated cardiomyopathy 1JJ 2021-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004639495 SCV005132374 uncertain significance Cardiovascular phenotype 2024-05-06 criteria provided, single submitter clinical testing The p.E596V variant (also known as c.1787A>T), located in coding exon 13 of the LAMA4 gene, results from an A to T substitution at nucleotide position 1787. The glutamic acid at codon 596 is replaced by valine, an amino acid with 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.

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