GENE REFERENCE / HGNC:10938

SLC19A2

solute carrier family 19 member 2

protein-coding gene1q24.2Gene information

What does this gene do?

The SLC19A2 gene provides instructions for making a protein called thiamine transporter 1. This protein is located on the surface of cells, where it works to bring vitamin B1 (thiamine) into cells. Thiamine helps the body convert carbohydrates into energy, and it is also essential for the functioning of the heart, muscles, and nervous system. This vitamin must be obtained from food because the body cannot produce thiamine on its own. Many different foods contain thiamine, including whole grains, pasta, fortified breads and cereals, lean meats, fish, and beans.

Source: MedlinePlus, National Library of Medicine. Source publication: 2024-12-09. Source review: 2024-12.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

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: 559
Submissions for variants in or overlapping this gene: 820
Submissions explicitly reporting this gene: 778
Alleles reported pathogenic / likely pathogenic: 66
VariationIDs with uncertain significance: 197
VariationIDs with conflicting classifications: 24

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 SLC19A2?

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 66 alleles in SLC19A2 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 SLC19A2.

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

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