DHTKD1 p.Ala574=
c.1722G>C · rs777399899 · VCV2758570
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
2-aminoadipic 2-oxoadipic aciduria
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.006 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.073 | GERP -1.6, phastCons 0.088 |
| Overall | ||
| CADD | 2.981 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DHTKD1
- Protein
- p.Ala574=
- Coding
- c.1722G>C
- MANE Select
- NM_018706
- dbSNP
- rs777399899
- Type
- single nucleotide variant
- Location
- chr10:12100228 (GRCh38)
- Gene constraint
- LOEUF 0.864 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.19 · 8 PDB
- Residue 574
- a UniProt-annotated variant site (in aakad); an α-helix
Disease context
2-aminoadipic 2-oxoadipic aciduria — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor 2-aminoadipic 2-oxoadipic aciduria (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood, Infancy
Similar variants
- DHTKD1 p.Ala574Thr Uncertain significance ★★ ⚠ same residue
- DHTKD1 p.Ala574Val Uncertain significance ★★ ⚠ same residue
- DHTKD1 c.1671+1G>A Likely pathogenic ★★ same condition
- DHTKD1 c.1897-1G>A Pathogenic/Likely pathogenic ★★ same condition
- DHTKD1 c.2320-2A>T Likely pathogenic ★★ same condition
- DHTKD1 c.2572+1G>A Likely pathogenic ★★ same condition
- DHTKD1 p.Arg163Ter Pathogenic ★★ same condition
- DHTKD1 p.Arg410Ter 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/dhtkd1-p-ala574 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown