Infantile myofibromatosis: genes and variants
Explore variant evidence for Infantile myofibromatosis across 2 analyzed proteins (NOTCH3, PDGFRB). Linked ClinVar records include 22 pathogenic or likely pathogenic variants, 90 variants of uncertain significance and 36 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 Infantile myofibromatosis
NOTCH3: Neurogenic locus notch homolog protein 3
Its signaling helps maintain vascular smooth-muscle and mural-cell identity in small arteries. Pathogenic cysteine-altering variants cause CADASIL, with migraine, recurrent ischemic strokes, white-matter disease, and progressive cognitive impairment.
12 ClinVar pathogenic / likely pathogenic and 27 uncertain variants in NOTCH3 have source records linked to Infantile myofibromatosis. Association strength is not clinical gene validity.
PDGFRB: Platelet-derived growth factor receptor beta
Its signaling supports pericytes, vascular smooth-muscle cells, and other mesenchymal lineages during growth and tissue repair. Oncogenic fusions drive myeloid neoplasms, while germline activating or loss-of-function variants can cause developmental and vascular disorders.
10 ClinVar pathogenic / likely pathogenic and 99 uncertain variants in PDGFRB have source records linked to Infantile myofibromatosis. Association strength is not clinical gene validity.
Where Infantile myofibromatosis variants cluster
- NOTCH3 EGF-like 3 (positions 119–156): 3 of 12 ClinVar pathogenic / likely pathogenic variants, 15.3× more than its size predicts.
- PDGFRB Cytoplasmic (positions 554–1106): 9 of 10 ClinVar pathogenic / likely pathogenic variants, 1.8× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Infantile myofibromatosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NOTCH3 C146Y | 146 | EGF-like 3 | Pathogenic / likely pathogenic (★★) |
| NOTCH3 C1099Y | 1099 | EGF-like 28 | Pathogenic / likely pathogenic (★★) |
| PDGFRB N666H | 666 | Protein kinase | Pathogenic / likely pathogenic (★★) |
| PDGFRB N666K | 666 | Protein kinase | Pathogenic / likely pathogenic (★★) |
| NOTCH3 R54C | 54 | EGF-like 1 | Pathogenic / likely pathogenic (★★) |
| NOTCH3 R133C | 133 | EGF-like 3 | Pathogenic / likely pathogenic (★★) |
| NOTCH3 R141C | 141 | EGF-like 3 | Pathogenic / likely pathogenic (★★) |
| NOTCH3 R207C | 207 | EGF-like 5 | Pathogenic / likely pathogenic (★★) |
| PDGFRB R561C | 561 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| NOTCH3 C49G | 49 | EGF-like 1 | Pathogenic / likely pathogenic (★★) |
| NOTCH3 C106G | 106 | EGF-like 2 | Pathogenic / likely pathogenic (★★) |
| NOTCH3 C206Y | 206 | EGF-like 5 | Pathogenic / likely pathogenic (★★) |
| NOTCH3 R607C | 607 | EGF-like 15 | Pathogenic / likely pathogenic (★★) |
| PDGFRB W566R | 566 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| NOTCH3 R544C | 544 | Extracellular | Pathogenic / likely pathogenic (★★) |
| PDGFRB D850V | 850 | Protein kinase | Pathogenic / likely pathogenic (★) |
| PDGFRB D850Y | 850 | Protein kinase | Pathogenic / likely pathogenic (★) |
| PDGFRB I538N | 538 | Transmembrane | Pathogenic / likely pathogenic (★) |
| PDGFRB Y562D | 562 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| PDGFRB A828E | 828 | Protein kinase | Pathogenic / likely pathogenic (★) |
| NOTCH3 L1519P | 1519 | Extracellular | Pathogenic / likely pathogenic |
| PDGFRB K567E | 567 | Cytoplasmic | Pathogenic / likely pathogenic |
Uncertain variants prioritized for review in Infantile myofibromatosis
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| PDGFRB D850G | 850 | Protein kinase | Uncertain (★★) | +7: 2 other pathogenic changes within 3 positions; D850V at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.892 |
Which prediction tools work for Infantile myofibromatosis
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- REVEL: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- MetaLR: 92 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 85 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 85 out of 100
- SIFT: 79 out of 100
- phyloP: 65 out of 100
Same protein, different disease
- CADASIL also has ClinVar records linked to NOTCH3 variants; they fall mostly in different places as the Infantile myofibromatosis variants (89 pathogenic / likely pathogenic).
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome also has ClinVar records linked to PDGFRB variants; they fall mostly in different places as the Infantile myofibromatosis variants (4 pathogenic / likely pathogenic).
Diseases related to Infantile myofibromatosis
- Gastrointestinal stromal tumor, also linked to PDGFRB
- CADASIL, also linked to NOTCH3
- Acute myeloid leukemia, also linked to PDGFRB
- Colorectal cancer, also linked to PDGFRB
- Auditory neuropathy, also linked to NOTCH3
- Non-small cell lung carcinoma, also linked to PDGFRB
- Idiopathic pulmonary fibrosis, also linked to PDGFRB
- Lateral meningocele syndrome, also linked to NOTCH3
- Adams-Oliver syndrome, also linked to NOTCH3
- Acroosteolysis-keloid-like lesions-premature aging syndrome, also linked to PDGFRB
- Hepatocellular carcinoma, also linked to PDGFRB
- Acute lymphoid leukemia, also linked to PDGFRB
Frequently asked questions
Which genes have records linked to Infantile myofibromatosis?
This view contains 2 analyzed proteins: NOTCH3, PDGFRB. 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 22 pathogenic or likely pathogenic variants, 90 variants of uncertain significance and 36 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. 1 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 200 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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