Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000023904 | SCV001367880 | pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2A | 2019-01-11 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3. |
DASA | RCV000023904 | SCV002526403 | likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2A | 2022-06-10 | criteria provided, single submitter | clinical testing | The c.275G>A;p.(Arg92Gln) missense change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 30916; NBK1535; PMID: 21419380) - PS4. This variant is not present in population databases:rs387907050, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. Pathogenic missense variant in this residue have been reported and classified as Pathogenic by ACMG criteria (PMID: 21419380 - c.274C>T;p.(Arg92Trp) - PM5. In summary, the currently available evidence indicates that the variant is Likely Pathogenic |
OMIM | RCV000023904 | SCV000045195 | pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2A | 2011-04-08 | no assertion criteria provided | literature only | |
Gene |
RCV000023904 | SCV000087053 | not provided | Megalencephalic leukoencephalopathy with subcortical cysts 2A | no assertion provided | literature only |