GENE REFERENCE / HGNC:10910

SLC12A1

solute carrier family 12 member 1

protein-coding gene15q21.1Gene information

What does this gene do?

The SLC12A1 gene provides instructions for making a protein known as NKCC2. This protein is a Na⁺/K⁺/2Cl^- cotransporter, which means that it moves charged atoms (ions) of sodium (Na⁺), potassium (K⁺), and chlorine (Cl^-) into cells.

The NKCC2 protein is essential for normal kidney function. The NKCC2 protein works with other transport proteins to regulate the movement of ions into and out of kidney cells. Together, these proteins provide the mechanism by which kidneys reabsorb salt (sodium chloride or NaCl) from the urine back into the bloodstream. The retention of salt affects the body's fluid levels and helps maintain blood pressure.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-01. Source review: 2011-02.

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
obsolete antenatal Bartter syndromeMONDO:0100343 · Evaluated 2022-04-21	Autosomal recessive	DefinitiveTubulopathy 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: 1,163
Submissions for variants in or overlapping this gene: 1,674
Submissions explicitly reporting this gene: 1,613
Alleles reported pathogenic / likely pathogenic: 156
VariationIDs with uncertain significance: 399
VariationIDs with conflicting classifications: 48

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 SLC12A1?

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 156 alleles in SLC12A1 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 SLC12A1.

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

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