Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000620215 | SCV000736898 | uncertain significance | Cardiovascular phenotype | 2023-01-01 | criteria provided, single submitter | clinical testing | The p.T183A variant (also known as c.547A>G), located in coding exon 5 of the LAMA4 gene, results from an A to G substitution at nucleotide position 547. The threonine at codon 183 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine 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 alteration remains unclear. |
Invitae | RCV000651436 | SCV000773287 | uncertain significance | Dilated cardiomyopathy 1JJ | 2023-12-03 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 183 of the LAMA4 protein (p.Thr183Ala). This variant is present in population databases (rs782667094, gnomAD 0.005%). 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: 519024). 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. 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. |
Gene |
RCV001529542 | SCV001787966 | uncertain significance | not provided | 2019-11-13 | 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# 519024; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Diagnostic Laboratory, |
RCV001529542 | SCV001743152 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001529542 | SCV001957541 | uncertain significance | not provided | no assertion criteria provided | clinical testing |