Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691508 | SCV000819291 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2023-05-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the POMGNT2 protein in which other variant(s) (p.Glu519*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 570608). This premature translational stop signal has been observed in individual(s) with clinical features of Walker-Warburg syndrome (Invitae). This variant is present in population databases (rs755487513, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln411Argfs*55) in the POMGNT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 170 amino acid(s) of the POMGNT2 protein. |