OFD1 p.Gln548fs
c.1644_1645del · VCV3755590
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
Joubert syndrome
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 15 of 23 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.7 | GERP 6.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- OFD1
- Protein
- p.Gln548fs
- Coding
- c.1644_1645del
- MANE Select
- NM_003611
- Type
- Deletion
- Location
- chrX:13758437 (GRCh38)
- Structure
- AlphaFold pLDDT 68.41
Similar variants
- OFD1 p.Arg373fs Pathogenic ★★ same condition
- OFD1 p.Glu134fs Pathogenic ★★ same condition
- OFD1 p.Lys237fs Pathogenic ★★ same condition
- OFD1 p.Lys455fs Pathogenic/Likely pathogenic ★★ same condition
- OFD1 p.Thr551fs Pathogenic/Likely pathogenic ★★ same condition
- OFD1 p.Tyr916fs Pathogenic ★★ same condition
- OFD1 p.Ser323fs Uncertain significance ★★ same condition
- OFD1 c.1056-21_1056-18del Likely benign ★★ 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/ofd1-p-gln548fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown