PDE6B p.Gln613fs
c.1837del · VCV3248803
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
inherited retinal dystrophy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 15 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.5 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PDE6B
- Protein
- p.Gln613fs
- Coding
- c.1837del
- MANE Select
- NM_000283
- Type
- Deletion
- Location
- chr4:663102 (GRCh38)
- Gene constraint
- LOEUF 1.238 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.72
- Residue 613
- the pdease domain
Similar variants
- PDE6B p.Ala143fs Pathogenic ★★ same condition
- PDE6B p.Asn643fs Pathogenic/Likely pathogenic ★★ same condition
- PDE6B p.Thr497fs Pathogenic ★★ same condition
- PDE6B c.1401+4_1401+48del Benign ★★ same condition
- PDE6B c.1921-20_1921-3del Likely pathogenic ★ same condition
- PDE6B p.Gln613Glu Uncertain significance ★ same residue
- PDE6B c.1060-1G>T Pathogenic/Likely pathogenic ★★ same condition
- PDE6B c.1107+3A>G Pathogenic/Likely 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/pde6b-p-gln613fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown