ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.1042C>T (p.Arg348Trp)

gnomAD frequency: 0.00002  dbSNP: rs752318754
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238934 SCV001411771 uncertain significance Congenital disorder of deglycosylation 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 348 of the NGLY1 protein (p.Arg348Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs752318754, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with NGLY1-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 disruptive. 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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