Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000414207 | SCV000492412 | uncertain significance | not specified | 2016-12-13 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the LAMA4 gene. The N354K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The N354K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position where amino acids with similar properties to Asparagine are tolerated across species. Finally, in silico analysis predicts this variant likely does not alter the protein structure/function. |