ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.448A>G (p.Arg150Gly)

dbSNP: rs1559551749
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701487 SCV000830290 uncertain significance Congenital disorder of deglycosylation 2018-05-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 150 of the NGLY1 protein (p.Arg150Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NGLY1-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 glycine 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.

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