Fibromatosis, gingival, 1: genes and variants
Fibromatosis, gingival, 1 is linked to 1 analyzed protein (SOS1). 4 DNA variants are known to cause it; 81 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 Fibromatosis, gingival, 1
SOS1: Son of sevenless homolog 1
It activates RAS by exchanging GDP for GTP downstream of receptor tyrosine kinases. Germline activating variants are a common cause of Noonan syndrome, while excessive SOS1-RAS signaling can contribute to cancer.
4 disease-causing and 81 uncertain variants in SOS1 are linked to Fibromatosis, gingival, 1.
Known disease-causing variants in Fibromatosis, gingival, 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SOS1 I437S | 437 | Disease-causing (★★) | |
| SOS1 W85R | 85 | Disease-causing (★★) | |
| SOS1 I736R | 736 | N-terminal Ras-GEF | Disease-causing (★★) |
| SOS1 Q477R | 477 | PH | Disease-causing (★★) |
Same protein, different disease
- Noonan syndrome is also caused by SOS1 variants; they fall mostly in different places as the Fibromatosis, gingival, 1 variants (30 disease-causing).
- RASopathy is also caused by SOS1 variants; they fall mostly in different places as the Fibromatosis, gingival, 1 variants (22 disease-causing).
- Noonan syndrome and Noonan-related syndrome is also caused by SOS1 variants; they fall mostly in different places as the Fibromatosis, gingival, 1 variants (9 disease-causing).
Diseases related to Fibromatosis, gingival, 1
- RASopathy, also linked to SOS1
- Noonan syndrome, also linked to SOS1
- Noonan syndrome and Noonan-related syndrome, also linked to SOS1
- Monogenic short statue, also linked to SOS1
- Male infertility with azoospermia or oligozoospermia due to single gene mutation, also linked to SOS1
Frequently asked questions
Which genes are linked to Fibromatosis, gingival, 1?
In CATVariant, Fibromatosis, gingival, 1 is linked to 1 analyzed protein: SOS1 (Son of sevenless homolog 1).
How many genetic variants are linked to Fibromatosis, gingival, 1?
85 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 81 are of uncertain significance or have conflicting reports.
Which uncertain variants in Fibromatosis, gingival, 1 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.
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