TMEM237 p.Arg83del
c.244AGA[1] · VCV3650378
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Joubert syndrome 14
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 4.4 | GERP 1.8, phastCons 1 |
Variant & gene context
- Gene
- TMEM237
- Protein
- p.Arg83del
- Coding
- c.244AGA[1]
- MANE Select
- NM_001044385
- Type
- Microsatellite
- Location
- chr2:201636773 (GRCh38)
- Gene constraint
- LOEUF 1.318 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.79
- Residue 83
- the 'disordered' region
Similar variants
- TMEM237 p.Ser340del Uncertain significance ★★ same condition
- TMEM237 c.137-14_137-13del Likely benign ★ same condition
- TMEM237 c.136+1G>T Likely pathogenic ★★ same condition
- TMEM237 c.553+1G>A Pathogenic/Likely pathogenic ★★ same condition
- TMEM237 c.677+1G>A Pathogenic/Likely pathogenic ★★ same condition
- TMEM237 c.869+1del Pathogenic ★★ same condition
- TMEM237 c.869+1G>A Pathogenic/Likely pathogenic ★★ same condition
- TMEM237 c.943+1G>T Pathogenic ★★ 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/tmem237-p-arg83del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown