GENE REFERENCE / HGNC:10513

SAA1

serum amyloid A1

protein-coding gene11p15.1Gene information

What does this gene do?

The SAA1 gene provides instructions for making a protein called serum amyloid A1. This protein is made primarily in the liver and circulates in low levels in the blood. Although its function is not fully understood, serum amyloid A1 appears to play a role in the immune system. Serum amyloid A1 may help repair damaged tissues, act as an antibacterial agent, and signal the migration of germ-fighting cells to sites of infection.

Levels of this protein increase in the blood and other tissues under conditions of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body stops the inflammatory response to prevent damage to its own cells and tissues.

There are three versions of the serum amyloid A1 protein, known as alpha, beta, and gamma, which differ by one or two protein building blocks (amino acids). The frequency of these versions differs across populations. In white populations, for example, the alpha version predominates and gamma is rare. In the Japanese population, however, the three versions appear almost equally.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-09-08. Source review: 2008-09.

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: 49
Submissions for variants in or overlapping this gene: 72
Submissions explicitly reporting this gene: 54
Alleles reported pathogenic / likely pathogenic: Not reported
VariationIDs with uncertain significance: 22
VariationIDs with conflicting classifications: 0

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 SAA1?

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.

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 SAA1.

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

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