ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.1124C>T (p.Thr375Ile) (rs200888878)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641718 SCV000763366 uncertain significance Congenital disorder of glycosylation type 2B 2019-10-25 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 375 of the MOGS protein (p.Thr375Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs200888878, ExAC 0.06%). This variant has not been reported in the literature in individuals with MOGS-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000641718 SCV000898833 uncertain significance Congenital disorder of glycosylation type 2B 2018-05-25 criteria provided, single submitter clinical testing MOGS NM_006302.2 exon 4 p.Thr375Ile (c.1124C>T): This variant has not been reported in the literature but is present in 0.1% (53/33582) of Latino alleles in the Genome Aggregation Database ( This variant amino acid Isoleucine (Ile) is present in >5 species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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