Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001305249 | SCV001494578 | uncertain significance | Hyperinsulinism-hyperammonemia syndrome | 2020-03-25 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals with GLUD1-related conditions. This variant is present in population databases (rs753448342, ExAC 0.003%). This sequence change falls in intron 8 of the GLUD1 gene. It does not directly change the encoded amino acid sequence of the GLUD1 protein. |