ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2189G>A (p.Arg730His)

gnomAD frequency: 0.00008  dbSNP: rs781825990
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208398 SCV000263993 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-11-12 criteria provided, single submitter clinical testing
Invitae RCV001235492 SCV001408181 uncertain significance Dilated cardiomyopathy 1JJ 2023-04-30 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 222681). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs781825990, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 723 of the LAMA4 protein (p.Arg723His).
Ambry Genetics RCV002415879 SCV002724738 uncertain significance Cardiovascular phenotype 2018-08-17 criteria provided, single submitter clinical testing The p.R723H variant (also known as c.2168G>A), located in coding exon 17 of the LAMA4 gene, results from a G to A substitution at nucleotide position 2168. The arginine at codon 723 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available 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.

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