OFD1 p.Gln136=
c.408A>G · rs752910438 · VCV3028566
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00594%, eas)
Conditions
1
inherited retinal dystrophy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.57 | GERP -1.5, phastCons 0.79 |
| Overall | ||
| CADD | 3.871 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00594%
East Asian · 2/33,681 alleles
Filtering AF
0.00162%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00138%
Overall
0.002%
24/1,202,325 alleles · very rare
exomes 23/1,090,425 · genomes 1/111,900 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00594% | 16,840 |
| European (non-Finnish) | 0.00247% | 40,406 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- OFD1
- Protein
- p.Gln136=
- Coding
- c.408A>G
- MANE Select
- NM_003611
- dbSNP
- rs752910438
- Type
- single nucleotide variant
- Location
- chrX:13739028 (GRCh38)
- Structure
- AlphaFold pLDDT 68.41
Similar variants
- OFD1 p.Arg890Ter Pathogenic/Likely pathogenic ★★ same condition
- OFD1 p.Arg644Cys Benign/Likely benign ★★ same condition
- OFD1 p.Glu792= Benign/Likely benign ★★ same condition
- OFD1 p.Gly842Arg Benign/Likely benign ★★ same condition
- OFD1 p.His151Tyr Benign/Likely benign ★★ same condition
- OFD1 p.Lys265= Benign/Likely benign ★★ same condition
- OFD1 p.Pro773= Likely benign ★★ same condition
- OFD1 p.Thr120= 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-gln136 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown