ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.900G>T (p.Leu300Phe)

dbSNP: rs886745696
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641714 SCV000763362 uncertain significance MOGS-congenital disorder of glycosylation 2021-01-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MOGS-related disease. This sequence change replaces leucine with phenylalanine at codon 300 of the MOGS protein (p.Leu300Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine.

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