ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.1052G>C (p.Arg351Thr)

gnomAD frequency: 0.00006  dbSNP: rs368536824
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641720 SCV000763368 uncertain significance MOGS-congenital disorder of glycosylation 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 351 of the MOGS protein (p.Arg351Thr). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and threonine. This variant is present in population databases (rs368536824, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with MOGS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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