ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.203A>G (p.Asn68Ser)

gnomAD frequency: 0.00001  dbSNP: rs782428669
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479286 SCV000573751 uncertain significance not provided 2019-11-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002481536 SCV002785944 uncertain significance Dilated cardiomyopathy 1JJ 2021-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168982 SCV003858539 uncertain significance Cardiovascular phenotype 2022-12-14 criteria provided, single submitter clinical testing The p.N68S variant (also known as c.203A>G), located in coding exon 2 of the LAMA4 gene, results from an A to G substitution at nucleotide position 203. The asparagine at codon 68 is replaced by serine, an amino acid with highly 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.
Invitae RCV002481536 SCV004506426 uncertain significance Dilated cardiomyopathy 1JJ 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 68 of the LAMA4 protein (p.Asn68Ser). This variant is present in population databases (rs782428669, gnomAD 0.01%). 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: 423982). 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.

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