Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150909 | SCV000198516 | likely benign | not specified | 2013-05-03 | criteria provided, single submitter | clinical testing | Ile36Val variant in exon 2 of LAMA4: This variant is not expected to have clinic al significance due to a lack of conservation across species, including mammals. Of note, kangaroo rat, rabbit, microbat, rock hyrax and platypus have a valine (Val) at this position despite high nearby amino acid conservation. In addition, computational analyses (AlignGVGD, PolyPhen2) do not suggest a high likelihood of impact to the protein. |
Gene |
RCV003332126 | SCV000715246 | uncertain significance | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002408666 | SCV002720985 | uncertain significance | Cardiovascular phenotype | 2022-05-02 | criteria provided, single submitter | clinical testing | The p.I36V variant (also known as c.106A>G), located in coding exon 1 of the LAMA4 gene, results from an A to G substitution at nucleotide position 106. The isoleucine at codon 36 is replaced by valine, an amino acid with highly 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. |