KMT2C-related NDD: genes and variants
KMT2C-related NDD is linked to 1 analyzed protein (KMT2C). 2 DNA variants are known to cause it; 1 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 KMT2C-related NDD
KMT2C: Histone-lysine N-methyltransferase 2C
It helps establish enhancer-associated H3K4 methylation and thereby controls lineage-specific transcription together with other COMPASS-family proteins. Somatic loss-of-function alterations are frequent across cancers, while germline variants can cause neurodevelopmental phenotypes.
2 disease-causing and 1 uncertain variants in KMT2C are linked to KMT2C-related NDD.
Known disease-causing variants in KMT2C-related NDD
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KMT2C R4595C | 4595 | FYR N-terminal | Disease-causing (★) |
| KMT2C R4779G | 4779 | SET | Disease-causing (★) |
Diseases related to KMT2C-related NDD
- Multiple myeloma, also linked to KMT2C
- Medulloblastoma, also linked to KMT2C
- Kleefstra syndrome 2, also linked to KMT2C
Frequently asked questions
Which genes are linked to KMT2C-related NDD?
In CATVariant, KMT2C-related NDD is linked to 1 analyzed protein: KMT2C (Histone-lysine N-methyltransferase 2C).
How many genetic variants are linked to KMT2C-related NDD?
11 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in KMT2C-related NDD 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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