Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000766529 | SCV000241861 | uncertain significance | not provided | 2016-05-09 | criteria provided, single submitter | clinical testing | The Lys571Arg missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution of one positively charged amino acid for another at a position in the Laminin G-like 3 domain that is conserved across species. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Lys571Arg is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s). |
Genetic Services Laboratory, |
RCV000188251 | SCV000596068 | uncertain significance | not specified | 2016-06-28 | criteria provided, single submitter | clinical testing |