Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000211493 | SCV000268510 | pathogenic | Hyperinsulinism-hyperammonemia syndrome | 2016-02-22 | criteria provided, single submitter | clinical testing | Pathogenic mutations in the GLUD1 gene are known to cause the hyperinsulinism-hyperammonemia syndrome. Another variant in the same codon (p.(Gly499Ser)) has been reported to cause the same pathology. |