ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2143G>T (p.Ala715Ser)

gnomAD frequency: 0.00004  dbSNP: rs140710429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651428 SCV000773279 uncertain significance Dilated cardiomyopathy 1JJ 2023-04-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 708 of the LAMA4 protein (p.Ala708Ser). 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 541216). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs140710429, gnomAD 0.004%).
GeneDx RCV001565478 SCV001788831 uncertain significance not provided 2021-03-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 541216; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002422405 SCV002729929 uncertain significance Cardiovascular phenotype 2021-12-24 criteria provided, single submitter clinical testing The p.A708S variant (also known as c.2122G>T), located in coding exon 16 of the LAMA4 gene, results from a G to T substitution at nucleotide position 2122. The alanine at codon 708 is replaced by serine, an amino acid with 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.
Fulgent Genetics, Fulgent Genetics RCV000651428 SCV002786765 uncertain significance Dilated cardiomyopathy 1JJ 2021-10-20 criteria provided, single submitter clinical testing

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