CLTC p.Glu211fs
c.630del · VCV3337917
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 32 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CLTC
- Protein
- p.Glu211fs
- Coding
- c.630del
- MANE Select
- NM_004859
- Type
- Deletion
- Location
- chr17:59648350 (GRCh38)
- Gene constraint
- LOEUF 0.104 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 75.62 · 10 PDB
- Residue 211
- the 'wd40-like repeat 5' region; the 'globular terminal domain' region
Similar variants
- CLTC p.Tyr1598fs Pathogenic ★★ same type
- PTRH2 p.Ala90fs Pathogenic ★★ same type
- CLTC c.4435-4del Benign/Likely benign ★★ same type
- CLTC c.2129-7_2129-4del Pathogenic ★ same type
- CLTC p.Ala1496fs Pathogenic ★ same type
- CLTC p.Ala475fs Pathogenic ★ same type
- CLTC p.Arg1563fs Pathogenic ★ same type
- CLTC p.Asn678fs Likely pathogenic ★ same type
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/cltc-p-glu211fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown