Renal glucosuria: genes and variants
Explore variant evidence for Renal glucosuria across 1 analyzed protein (SLC5A2). Linked ClinVar records include 18 pathogenic or likely pathogenic variants, 124 variants of uncertain significance and 15 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Renal glucosuria
SLC5A2: Sodium/glucose cotransporter 2
It reabsorbs most filtered glucose from the renal proximal tubule together with sodium. Loss-of-function variants cause familial renal glucosuria, while pharmacologic inhibition lowers blood glucose and provides major cardiovascular and kidney benefits.
18 ClinVar pathogenic / likely pathogenic and 139 uncertain variants in SLC5A2 have source records linked to Renal glucosuria. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Renal glucosuria
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC5A2 K321R | 321 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| SLC5A2 G77S | 77 | Transmembrane | Pathogenic / likely pathogenic (★) |
| SLC5A2 R132C | 132 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| SLC5A2 R137H | 137 | Transmembrane | Pathogenic / likely pathogenic (★) |
| SLC5A2 R137C | 137 | Transmembrane | Pathogenic / likely pathogenic (★) |
| SLC5A2 C301R | 301 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| SLC5A2 G484D | 484 | Transmembrane | Pathogenic / likely pathogenic (★) |
| SLC5A2 G356S | 356 | Extracellular | Pathogenic / likely pathogenic (★) |
| SLC5A2 V116M | 116 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| SLC5A2 A219T | 219 | Extracellular | Pathogenic / likely pathogenic (★) |
| SLC5A2 R368W | 368 | Extracellular | Pathogenic / likely pathogenic (★) |
| SLC5A2 F453L | 453 | Transmembrane | Pathogenic / likely pathogenic (★) |
| SLC5A2 A469T | 469 | Transmembrane | Pathogenic / likely pathogenic (★) |
| SLC5A2 P514S | 514 | Extracellular | Pathogenic / likely pathogenic (★) |
| SLC5A2 A89T | 89 | Extracellular | Pathogenic / likely pathogenic |
| SLC5A2 F98L | 98 | Transmembrane | Pathogenic / likely pathogenic |
| SLC5A2 G449C | 449 | Extracellular | Pathogenic / likely pathogenic |
| SLC5A2 R479G | 479 | Cytoplasmic | Pathogenic / likely pathogenic |
Uncertain variants prioritized for review in Renal glucosuria
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| SLC5A2 R132H | 132 | Cytoplasmic | Uncertain (★★) | +6: in a 3D region that tolerates change poorly (3R); R132C at the same position is pathogenic; REVEL 0.978 |
| SLC5A2 R132S | 132 | Cytoplasmic | Uncertain (★★) | +6: in a 3D region that tolerates change poorly (3R); R132C at the same position is pathogenic; REVEL 0.943 |
Diseases related to Renal glucosuria
- Type 2 diabetes mellitus, also linked to SLC5A2
- Diabetes, also linked to SLC5A2
- Type 1 diabetes mellitus, also linked to SLC5A2
Frequently asked questions
Which genes have records linked to Renal glucosuria?
This view contains 1 analyzed proteins: SLC5A2. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 18 pathogenic or likely pathogenic variants, 124 variants of uncertain significance and 15 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 2 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 163 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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