GENE REFERENCE / HGNC:17646

NGLY1

N-glycanase 1

protein-coding gene3p24.2Gene information

What does this gene do?

The NGLY1 gene provides instructions for making an enzyme called N-glycanase 1. This enzyme is involved in a process called deglycosylation, by which chains of sugar molecules (glycans) are removed from proteins. Specifically, N-glycanase 1 removes glycans from misfolded proteins. This step is thought to be essential for certain abnormal proteins to be broken down (degraded).

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-08.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
congenital disorder of deglycosylation 1MONDO:0800044 · Evaluated 2022-10-18	Autosomal recessive	DefinitiveGeneral Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 973
Submissions for variants in or overlapping this gene: 1,342
Submissions explicitly reporting this gene: 1,307
Alleles reported pathogenic / likely pathogenic: 138
VariationIDs with uncertain significance: 336
VariationIDs with conflicting classifications: 26

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about NGLY1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 138 alleles in NGLY1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in NGLY1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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