ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.851G>A (p.Trp284Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043721 SCV001207481 uncertain significance Congenital disorder of glycosylation type 2B 2019-04-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MOGS gene (p.Trp284*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 554 amino acids of the MOGS protein. This variant is present in population databases (rs749476593, ExAC 0.01%). This variant has not been reported in the literature in individuals with MOGS-related conditions. This variant disrupts the C-terminus of the MOGS protein. Other variant(s) that disrupt this region (p.Arg535*) have been observed in individuals with MOGS-related conditions (PMID: 29235540). This suggests that this may be a clinically significant region of the protein. 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.

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