Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000791215 | SCV000930501 | uncertain significance | Dilated cardiomyopathy 1JJ | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002406719 | SCV002714894 | uncertain significance | Cardiovascular phenotype | 2021-11-02 | criteria provided, single submitter | clinical testing | The p.A594T variant (also known as c.1780G>A), located in coding exon 13 of the LAMA4 gene, results from a G to A substitution at nucleotide position 1780. The alanine at codon 594 is replaced by threonine, 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. |
Invitae | RCV000791215 | SCV003509719 | uncertain significance | Dilated cardiomyopathy 1JJ | 2021-12-18 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 638532). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 594 of the LAMA4 protein (p.Ala594Thr). |