ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.952A>G (p.Ile318Val)

gnomAD frequency: 0.00011  dbSNP: rs141372605
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621871 SCV000736444 uncertain significance Cardiovascular phenotype 2022-10-02 criteria provided, single submitter clinical testing The p.I311V variant (also known as c.931A>G), located in coding exon 7 of the LAMA4 gene, results from an A to G substitution at nucleotide position 931. The isoleucine at codon 311 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other 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 variant remains unclear.
Invitae RCV000697311 SCV000825913 uncertain significance Dilated cardiomyopathy 1JJ 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 311 of the LAMA4 protein (p.Ile311Val). This variant is present in population databases (rs141372605, gnomAD 0.03%). 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: 518861). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV001584434 SCV001821105 uncertain significance not provided 2019-10-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar (ClinVar Variant ID# 518861; Landrum et al., 2016)
Fulgent Genetics, Fulgent Genetics RCV000697311 SCV002786040 uncertain significance Dilated cardiomyopathy 1JJ 2021-09-10 criteria provided, single submitter clinical testing

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