Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000819105 | SCV000959748 | uncertain significance | MOGS-congenital disorder of glycosylation | 2018-10-19 | 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 disrupts a region of the protein in which other variant (p.Phe652Leu) has been observed in an affected individual (PMID: 10788335). This suggests that this may be a clinically significant region of the MOGS protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with MOGS-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the MOGS gene (p.Leu600Argfs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 238 amino acids of the MOGS protein. |