Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198964 | SCV000250532 | uncertain significance | not provided | 2020-01-28 | 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; This variant is associated with the following publications: (PMID: 32880476) |
Invitae | RCV001037706 | SCV001201134 | uncertain significance | Dilated cardiomyopathy 1JJ | 2024-01-06 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 860 of the LAMA4 protein (p.Pro860Thr). This variant is present in population databases (rs782162498, gnomAD 0.02%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 32880476). This variant is also known as p.Pro867Thr. ClinVar contains an entry for this variant (Variation ID: 213587). 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 tolerated. 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. |
Ambry Genetics | RCV002453721 | SCV002739129 | uncertain significance | Cardiovascular phenotype | 2021-12-14 | criteria provided, single submitter | clinical testing | The p.P860T variant (also known as c.2578C>A), located in coding exon 19 of the LAMA4 gene, results from a C to A substitution at nucleotide position 2578. The proline at codon 860 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
Fulgent Genetics, |
RCV001037706 | SCV002816272 | uncertain significance | Dilated cardiomyopathy 1JJ | 2021-09-08 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000198964 | SCV001926295 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000198964 | SCV001952467 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000198964 | SCV002034643 | uncertain significance | not provided | no assertion criteria provided | clinical testing |