MRTFB p.Ser192del
c.570CAG[1] · VCV4293773
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
MRTFB-related neurodevelopmental disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.9, phastCons 1 |
Variant & gene context
- Gene
- MRTFB
- Protein
- p.Ser192del
- Coding
- c.570CAG[1]
- MANE Select
- NM_001308142
- Type
- Microsatellite
- Location
- chr16:14218875 (GRCh38)
- Gene constraint
- LOEUF 0.351 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 53.38
- Residue 192
- the 'disordered' region
Disease context
MRTFB-related neurodevelopmental disorder
Similar variants
- MRTFB p.Ala91Pro Pathogenic ★ same condition
- MRTFB p.Leu160Pro Likely pathogenic ★ same condition
- MRTFB p.Ala138Glu Uncertain significance ★ same condition
- MRTFB p.Lys423Thr Uncertain significance ★ same condition
- MRTFB p.Arg104= Pathogenic same condition
- MRTFB p.Arg104Gly Pathogenic same condition
- MRTFB p.His18Leu Uncertain significance same condition
- MRTFB p.Thr228Ser Uncertain significance same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/mrtfb-p-ser192del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown