Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Genetics Unit, |
RCV001256671 | SCV001422505 | likely pathogenic | Vanishing white matter disease | 2018-07-05 | criteria provided, single submitter | clinical testing | The Pro205Leu variant in EIF2B4 gene has been reported in a Sri Lankan patient diagnosed with Leukoencephalopathy with Vanishing White Matter (PMID: 30073106). This mutation is not found in global population frequency databases or in our internal exome database. This variant is located in an area of the EIF2B4 gene that is highly conserved in different species of animals during evolution and it causes a non-conservative substitution of amino acids. According to ACMG criteria (2015), this variant can be classified as likely pathogenic. |