Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001225824 | SCV001398117 | uncertain significance | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2019-08-24 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with HGSNAT-related conditions. This variant is present in population databases (rs750824770, ExAC 0.002%). This sequence change results in a premature translational stop signal in the HGSNAT gene (p.Gln596*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acids of the HGSNAT protein. |