Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194485 | SCV004241188 | likely pathogenic | Leukoencephalopathy with calcifications and cysts | 2023-12-15 | criteria provided, single submitter | clinical testing | Variant summary: SNORD118 n.82A>G alters a nucleotide in a non-coding RNA. The variant allele was found at a frequency of 6.5e-05 in 232074 control chromosomes (i.e., 15 alleles, no homozygotes; gnomAD v2.1.1 Exomes dataset). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. n.82A>G has been reported in the literature in multiple compound heterozygous individuals affected with Leukoencephalopathy With Calcifications And Cysts (e.g., Jenkinson_2016, Hermens_2018, Jin_2018, Schobers_2022). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 29970281, 27571260, 29996189, 35710456). One submitter has reported clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Laboratory of Neurogenetics and Neuroinflammation, |
RCV001194485 | SCV001364110 | pathogenic | Leukoencephalopathy with calcifications and cysts | 2020-04-06 | no assertion criteria provided | clinical testing | |
| Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV002251759 | SCV002522460 | pathogenic | not provided | no assertion criteria provided | clinical testing |