Diastrophic dysplasia: genes and variants
Explore variant evidence for Diastrophic dysplasia across 1 analyzed protein (SLC26A2). Linked ClinVar records include 16 pathogenic or likely pathogenic variants, 78 variants of uncertain significance and 17 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. Counts refer to the selected disease label.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Diastrophic dysplasia
SLC26A2: Sulfate transporter
A sulfate transporter that supplies chondrocytes with sulfate for cartilage proteoglycan production. Variants cause a spectrum of skeletal disorders, including diastrophic dysplasia.
16 ClinVar pathogenic / likely pathogenic and 95 uncertain variants in SLC26A2 have source records linked to Diastrophic dysplasia. Association strength is not clinical gene validity.
Where Diastrophic dysplasia variants cluster
- SLC26A2 STAS (positions 568–719): 6 of 16 ClinVar pathogenic / likely pathogenic variants, 1.8× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Diastrophic dysplasia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC26A2 C653G | 653 | STAS | Pathogenic / likely pathogenic (★★) |
| SLC26A2 L483P | 483 | Pathogenic / likely pathogenic (★★) | |
| SLC26A2 A715V | 715 | STAS | Pathogenic / likely pathogenic (★★) |
| SLC26A2 H665P | 665 | STAS | Pathogenic / likely pathogenic (★★) |
| SLC26A2 L315P | 315 | Pathogenic / likely pathogenic (★) | |
| SLC26A2 A386G | 386 | Transmembrane | Pathogenic / likely pathogenic (★) |
| SLC26A2 I426N | 426 | Transmembrane | Pathogenic / likely pathogenic (★) |
| SLC26A2 I426T | 426 | Transmembrane | Pathogenic / likely pathogenic (★) |
| SLC26A2 C653S | 653 | STAS | Pathogenic / likely pathogenic (★) |
| SLC26A2 A715T | 715 | STAS | Pathogenic / likely pathogenic (★) |
| SLC26A2 W505R | 505 | Pathogenic / likely pathogenic (★) | |
| SLC26A2 R671H | 671 | STAS | Pathogenic / likely pathogenic (★) |
| SLC26A2 G166R | 166 | Pathogenic / likely pathogenic | |
| SLC26A2 D111Y | 111 | Pathogenic / likely pathogenic | |
| SLC26A2 G484D | 484 | Pathogenic / likely pathogenic | |
| SLC26A2 D250V | 250 | Transmembrane | Pathogenic / likely pathogenic |
Uncertain variants prioritized for review in Diastrophic dysplasia
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| SLC26A2 C653Y | 653 | STAS | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; C653S at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.90 |
| SLC26A2 L483F | 483 | Uncertain (★) | +6: 2 other pathogenic changes within 3 positions; L483P at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.87 |
Which prediction tools work for Diastrophic dysplasia
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- AlphaMissense: 98 out of 100
- CATVariant: 94 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- REVEL: 94 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- AlphaGenome (regulatory): 92 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- ESM1b (LLR): 91 out of 100
- CADD: 91 out of 100
- SIFT: 90 out of 100
- PolyPhen-2: 88 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- phyloP: 82 out of 100
- AlphaGenome (splicing): 52 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Achondrogenesis type II also has ClinVar records linked to SLC26A2 variants; they fall mostly in different places as the Diastrophic dysplasia variants (14 pathogenic / likely pathogenic).
- Multiple epiphyseal dysplasia also has ClinVar records linked to SLC26A2 variants; they fall partly in the same places as the Diastrophic dysplasia variants (12 pathogenic / likely pathogenic).
- Atelosteogenesis type II also has ClinVar records linked to SLC26A2 variants; they fall partly in the same places as the Diastrophic dysplasia variants (11 pathogenic / likely pathogenic).
- Osteochondrodysplasia also has ClinVar records linked to SLC26A2 variants; they fall mostly in different places as the Diastrophic dysplasia variants (3 pathogenic / likely pathogenic).
Diseases related to Diastrophic dysplasia
- Achondrogenesis type II, also linked to SLC26A2
- Multiple epiphyseal dysplasia, also linked to SLC26A2
- Connective tissue disease, also linked to SLC26A2
- Atelosteogenesis type II, also linked to SLC26A2
- Osteochondrodysplasia, also linked to SLC26A2
Frequently asked questions
Which genes have records linked to Diastrophic dysplasia?
This view contains 1 analyzed proteins: SLC26A2. 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 16 pathogenic or likely pathogenic variants, 78 variants of uncertain significance and 17 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 140 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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