Supravalvar aortic stenosis: genes and variants
Supravalvar aortic stenosis is linked to 1 analyzed protein (ELN). 5 DNA variants are known to cause it; 340 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Supravalvar aortic stenosis
ELN: Elastin
Its elastic fibers allow arteries, lungs, skin, and other tissues to stretch and recoil repeatedly without structural failure. Haploinsufficiency causes supravalvular aortic stenosis, while other pathogenic variants can cause autosomal dominant cutis laxa.
5 disease-causing and 340 uncertain variants in ELN are linked to Supravalvar aortic stenosis.
Known disease-causing variants in Supravalvar aortic stenosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ELN M1T | 1 | Disease-causing (★★) | |
| ELN M1V | 1 | Disease-causing (★) | |
| ELN L526V | 526 | Disease-causing (★) | |
| ELN K315R | 315 | Disease-causing (★) | |
| ELN G610Q | 610 | Disease-causing |
Diseases related to Supravalvar aortic stenosis
- Familial thoracic aortic aneurysm and aortic dissection, also linked to ELN
- Cutis laxa, also linked to ELN
Frequently asked questions
Which genes are linked to Supravalvar aortic stenosis?
In CATVariant, Supravalvar aortic stenosis is linked to 1 analyzed protein: ELN (Elastin).
How many genetic variants are linked to Supravalvar aortic stenosis?
359 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 340 are of uncertain significance or have conflicting reports.
Which uncertain variants in Supravalvar aortic stenosis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center