ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His)

gnomAD frequency: 0.00007  dbSNP: rs397516723
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037348 SCV000061005 likely benign not specified 2018-03-14 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV000621421 SCV000737085 uncertain significance Cardiovascular phenotype 2022-03-03 criteria provided, single submitter clinical testing The p.R690H variant (also known as c.2069G>A), located in coding exon 16 of the LAMA4 gene, results from a G to A substitution at nucleotide position 2069. The arginine at codon 690 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Invitae RCV000693225 SCV000821085 uncertain significance Dilated cardiomyopathy 1JJ 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 690 of the LAMA4 protein (p.Arg690His). This variant is present in population databases (rs397516723, gnomAD 0.02%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 44360). 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.
GeneDx RCV002280096 SCV002568757 uncertain significance not provided 2022-08-25 criteria provided, single submitter clinical testing Identified in patients with DCM in published literature (Pugh et al., 2014; Walsh et al., 2017); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24503780, 27532257)

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