Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000050000 | SCV000221091 | likely pathogenic | Muscle eye brain disease | 2015-01-28 | criteria provided, single submitter | literature only | |
Invitae | RCV000820354 | SCV000961063 | pathogenic | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 | 2019-12-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp590*) in the POMGNT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with muscle-eye-brain (MEB) disease (PMID: 21361872, 15466003). ClinVar contains an entry for this variant (Variation ID: 56587). Loss-of-function variants in POMGNT1 are known to be pathogenic (PMID: 19299310). For these reasons, this variant has been classified as Pathogenic. |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000050000 | SCV000082409 | probable-pathogenic | Muscle eye brain disease | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |