Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV001194477 | SCV001426454 | likely pathogenic | Leukoencephalopathy with calcifications and cysts | 2020-01-30 | criteria provided, single submitter | clinical testing | |
Hudson |
RCV001194477 | SCV004035174 | uncertain significance | Leukoencephalopathy with calcifications and cysts | 2023-08-25 | criteria provided, single submitter | research | |
Invitae | RCV003558749 | SCV004296734 | pathogenic | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | This variant occurs in the SNORD118 gene, which encodes an RNA molecule that does not result in a protein product. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has been observed in individuals with leukoencephalopathy (PMID: 27571260, 33029936). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 929265). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic. |
Laboratory of Neurogenetics and Neuroinflammation, |
RCV001194477 | SCV001364102 | pathogenic | Leukoencephalopathy with calcifications and cysts | 2020-04-06 | no assertion criteria provided | clinical testing |