CLOVE syndrome: genes and variants
Explore variant evidence for CLOVE syndrome across 2 analyzed proteins (PIK3CA, PIK3R1). Linked ClinVar records include 2 pathogenic or likely pathogenic variants, 2 variants of uncertain significance and 1 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 CLOVE syndrome
PIK3CA: Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
Its p110-alpha catalytic activity generates PIP3 and activates AKT-dependent growth, survival, and metabolic signaling downstream of many receptors. Activating variants are frequent cancer drivers and, when present mosaically during development, can cause PIK3CA-related overgrowth spectrum.
1 ClinVar pathogenic / likely pathogenic and 3 uncertain variants in PIK3CA have source records linked to CLOVE syndrome. Association strength is not clinical gene validity.
PIK3R1: Phosphatidylinositol 3-kinase regulatory subunit alpha
Its p85-family products stabilize and regulate class IA PI3K catalytic subunits and couple receptors to PI3K activation. Pathogenic variants can cause activated PI3K-delta syndrome type 2 or SHORT syndrome depending on how they alter pathway output.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in PIK3R1 have source records linked to CLOVE syndrome. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): GNA11.
ClinVar pathogenic and likely pathogenic variants linked to CLOVE syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PIK3CA C378R | 378 | C2 PI3K-type | Pathogenic / likely pathogenic (★★) |
| PIK3R1 K567E | 567 | Pathogenic / likely pathogenic (★) |
Same protein, different disease
- PIK3CA related overgrowth syndrome also has ClinVar records linked to PIK3CA variants; they fall mostly in different places as the CLOVE syndrome variants (30 pathogenic / likely pathogenic).
- Cowden disease also has ClinVar records linked to PIK3CA variants; they fall mostly in different places as the CLOVE syndrome variants (23 pathogenic / likely pathogenic).
- Megalencephaly-capillary malformation-polymicrogyria syndrome also has ClinVar records linked to PIK3CA variants; they fall mostly in different places as the CLOVE syndrome variants (22 pathogenic / likely pathogenic).
- Ovarian neoplasm also has ClinVar records linked to PIK3CA variants; they fall mostly in different places as the CLOVE syndrome variants (5 pathogenic / likely pathogenic).
- PIK3CA constitutional syndrome also has ClinVar records linked to PIK3CA variants; they fall mostly in different places as the CLOVE syndrome variants (4 pathogenic / likely pathogenic).
Diseases related to CLOVE syndrome
- Noonan syndrome, also linked to PIK3CA
- Cowden disease, also linked to PIK3CA
- Ovarian cancer, also linked to PIK3CA
- PIK3CA related overgrowth syndrome, also linked to PIK3CA
- Hereditary breast cancer, also linked to PIK3CA
- Megalencephaly-capillary malformation-polymicrogyria syndrome, also linked to PIK3CA
- Colorectal cancer, also linked to PIK3CA
- Gastric cancer, also linked to PIK3CA
- Urinary bladder cancer, also linked to PIK3CA
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, also linked to PIK3CA
- Non-small cell lung carcinoma, also linked to PIK3CA
- Vascular malformation, also linked to PIK3R1
Frequently asked questions
Which genes have records linked to CLOVE syndrome?
This view contains 2 analyzed proteins: PIK3CA, PIK3R1. 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 2 pathogenic or likely pathogenic variants, 2 variants of uncertain significance and 1 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. 0 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 15 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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