DTNB p.Val568=
c.1704C>T · rs200383554 · VCV734090
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.633%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.7 | GERP -3.4 |
| Overall | ||
| CADD | 2.519 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.633%
European (non-Finnish) · 7,421/1,171,974 alleles
Filtering AF
0.621%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.616%
Overall
0.508%
8,107/1,596,486 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.633% | 158 |
| Remaining individualsnot grpmax-eligible | 0.549% | 182 |
| Finnishnot grpmax-eligible | 0.175% | 572 |
| Admixed American | 0.16% | 624 |
| African / African-American | 0.0949% | 1,054 |
| South Asian | 0.0713% | 1,403 |
| Middle Eastern | 0.0497% | 2,011 |
| Ashkenazi Jewishnot grpmax-eligible | 0.024% | 4,167 |
| East Asian | 0.00452% | 22,122 |
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
- DTNB
- Protein
- p.Val568=
- Coding
- c.1704C>T
- MANE Select
- NM_021907
- dbSNP
- rs200383554
- Type
- single nucleotide variant
- Location
- chr2:25388233 (GRCh38)
- Gene constraint
- LOEUF 0.936 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.29
Similar variants
- DTNB p.Ala134Thr Uncertain significance ★ ⚠ same type
- DTNB p.Ala376Val Uncertain significance ★ ⚠ same type
- DTNB p.Ala410Ser Uncertain significance ★ ⚠ same type
- DTNB p.Ala526Thr Uncertain significance ★ ⚠ same type
- DTNB p.Ala575Val Uncertain significance ★ ⚠ same type
- DTNB p.Ala577Thr Uncertain significance ★ ⚠ same type
- DTNB p.Ala613Ser Uncertain significance ★ ⚠ same type
- DTNB p.Ala61Gly Uncertain significance ★ ⚠ 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/dtnb-p-val568 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown