Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000049999 | SCV000220156 | likely pathogenic | Muscle eye brain disease | 2014-03-12 | criteria provided, single submitter | literature only | |
Invitae | RCV000818740 | SCV000959370 | pathogenic | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 | 2019-12-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg580*) in the POMGNT1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs386834018, ExAC 0.002%). This variant has been observed in combination with another POMGNT1 variant in individuals affected with muscular dystrophy-dystroglycanopathy (PMID: 17906881, 19067344). ClinVar contains an entry for this variant (Variation ID: 56586). 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 |
RCV000049999 | SCV000082408 | probable-pathogenic | Muscle eye brain disease | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |