Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000822044 | SCV000962825 | uncertain significance | DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 | 2018-08-07 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 6 of the DPAGT1 gene. It does not directly change the encoded amino acid sequence of the DPAGT1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DPAGT1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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. |