ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer)

gnomAD frequency: 0.00001  dbSNP: rs1399649784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995581 SCV001149838 pathogenic MOGS-congenital disorder of glycosylation 2018-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000995581 SCV004676687 uncertain significance MOGS-congenital disorder of glycosylation 2023-01-15 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.002%). 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. ClinVar contains an entry for this variant (Variation ID: 807445). This variant has not been reported in the literature in individuals affected with MOGS-related conditions. This sequence change creates a premature translational stop signal (p.Glu622*) in the MOGS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 216 amino acid(s) of the MOGS protein.

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