GENE REFERENCE / HGNC:2183

VPS13B

vacuolar protein sorting 13 homolog B

protein-coding gene8q22.2Gene information

What does this gene do?

Researchers are still working to determine the exact role of the VPS13B gene (also called the COH1 gene) in the human body. Studies show that the protein produced from this gene is a part of the Golgi apparatus, which is a cell structure in which newly produced proteins are modified so they can carry out their functions. In particular, the VPS13B protein is involved in a modification called glycosylation, which is the attachment of sugar molecules to proteins. The VPS13B protein also appears to be involved in the sorting and transporting of proteins inside the cell.

Studies suggest several functions for the VPS13B protein in the body. The protein appears to play an important role in the normal growth and development of nerve cells (neurons). It may also be involved in the growth and development of adipocytes, which are cells that store fats for energy, and may play a role in the storage and distribution of fats in the body.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-06.

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
Cohen syndromeMONDO:0008999 · Evaluated 2018-08-15	Autosomal recessive	DefinitiveIntellectual Disability and Autism 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: 7,048
Submissions for variants in or overlapping this gene: 12,323
Submissions explicitly reporting this gene: 12,066
Alleles reported pathogenic / likely pathogenic: 1,314
VariationIDs with uncertain significance: 2,571
VariationIDs with conflicting classifications: 233

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 VPS13B?

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 1,314 alleles in VPS13B 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 VPS13B.

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

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