ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.2264G>T (p.Trp755Leu)

dbSNP: rs1461055157
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060358 SCV001225039 uncertain significance MOGS-congenital disorder of glycosylation 2019-12-06 criteria provided, single submitter clinical testing 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 disruptive, but 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. This variant has not been reported in the literature in individuals with MOGS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with leucine at codon 755 of the MOGS protein (p.Trp755Leu). The tryptophan residue is highly conserved and there is a small physicochemical difference between tryptophan and leucine.

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