GENE REFERENCE / HGNC:11065

SLC7A7

solute carrier family 7 member 7

protein-coding gene14q11.2Gene information

What does this gene do?

The SLC7A7 gene provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved in transporting certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. The transportation of amino acids from the small intestine and kidneys to the rest of the body is necessary for the body to be able to make and use proteins. The y+LAT-1 protein forms one part (the light subunit) of a complex called the heterodimeric cationic amino acid transporter. This subunit is responsible for binding to the amino acids that are transported.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-03-10. Source review: 2023-03.

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
lysinuric protein intoleranceMONDO:0009109 · Evaluated 2019-11-08	Autosomal recessive	DefinitiveAminoacidopathy 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: 964
Submissions for variants in or overlapping this gene: 1,623
Submissions explicitly reporting this gene: 1,580
Alleles reported pathogenic / likely pathogenic: 179
VariationIDs with uncertain significance: 299
VariationIDs with conflicting classifications: 34

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 SLC7A7?

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 179 alleles in SLC7A7 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 SLC7A7.

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

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