ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.652G>A (p.Gly218Arg)

gnomAD frequency: 0.00003  dbSNP: rs781829741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769203 SCV000900579 uncertain significance Cardiomyopathy 2020-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360874 SCV002660562 uncertain significance Cardiovascular phenotype 2022-10-05 criteria provided, single submitter clinical testing The p.G218R variant (also known as c.652G>A), located in coding exon 5 of the LAMA4 gene, results from a G to A substitution at nucleotide position 652. The glycine at codon 218 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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