Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003314557 | SCV004014448 | likely pathogenic | not provided | 2023-01-12 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect on protein function (Lpez-Hernndez et al., 2011; Arnedo et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20517947, 21419380, 22405205, 24647135, 21624973, 31960914, 25044933) |
OMIM | RCV002280810 | SCV000045199 | pathogenic | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | 2011-04-08 | no assertion criteria provided | literature only |