Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000483052 | SCV000568508 | likely pathogenic | not provided | 2022-06-20 | criteria provided, single submitter | clinical testing | Reported in association with EIF2B5-related leukoencephalopathy, however no evidence was provided to evaluate pathogenicity (Pronk et al., 2006; van der Lei et al., 2012); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); Published functional studies demonstrate a damaging effect as this variant leads to a significant decrease in protein function as compared to wild-type protein (Liu et al., 2011; De Almeida et al., 2013); This variant is associated with the following publications: (PMID: 23335982, 16632312, 22430157, 16807905, 21560189) |
Fulgent Genetics, |
RCV000763510 | SCV000894309 | pathogenic | Vanishing white matter disease | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000763510 | SCV001460711 | likely pathogenic | Vanishing white matter disease | 2020-09-16 | no assertion criteria provided | clinical testing |