Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000081807 | SCV000113742 | pathogenic | not provided | 2013-06-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081807 | SCV000617417 | pathogenic | not provided | 2018-12-24 | criteria provided, single submitter | clinical testing | The R311X variant in the POMGNT1 gene has been reported previously in two unrelated individuals with muscle eye brain disease, both of whom harbored a second POMGNT1 variant (Biancheri et al., 2006; Saredi et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R311X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R311X as a pathogenic variant. |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000050023 | SCV000082432 | probable-pathogenic | Muscle eye brain disease | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |