ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1837A>G (p.Met613Val)

gnomAD frequency: 0.00005  dbSNP: rs371083384
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001943812 SCV002194776 uncertain significance Dilated cardiomyopathy 1JJ 2022-07-06 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1421503). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs371083384, gnomAD 0.02%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 606 of the LAMA4 protein (p.Met606Val).
Ambry Genetics RCV002407089 SCV002714115 uncertain significance Cardiovascular phenotype 2024-07-06 criteria provided, single submitter clinical testing The p.M606V variant (also known as c.1816A>G), located in coding exon 14 of the LAMA4 gene, results from an A to G substitution at nucleotide position 1816. The methionine at codon 606 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well 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.
Fulgent Genetics, Fulgent Genetics RCV001943812 SCV002784254 uncertain significance Dilated cardiomyopathy 1JJ 2021-08-18 criteria provided, single submitter clinical testing
GeneDx RCV003235622 SCV003933097 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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