Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000536905 | SCV000658102 | uncertain significance | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2017-07-07 | criteria provided, single submitter | clinical testing | This variant, c.1018_1027delinsA, is a complex sequence change that results in the deletion of 4 amino acids of the G6PC protein and the insertion of 1 amino acid (p.Val340_Tyr343delinsAsp). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a G6PC-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. In summary, this variant has uncertain impact on G6PC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |