DHTKD1 p.Val423fs
c.1268del · VCV4906543
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
DHTKD1-related disorder
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 7 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.3 | GERP 1.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DHTKD1
- Protein
- p.Val423fs
- Coding
- c.1268del
- MANE Select
- NM_018706
- Type
- Deletion
- Location
- chr10:12094181 (GRCh38)
- Gene constraint
- LOEUF 0.864 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.19 · 8 PDB
- Residue 423
- a β-strand
Disease context
DHTKD1-related disorder
Similar variants
- DHTKD1 p.Pro799fs Likely pathogenic ★★ same condition
- DHTKD1 p.Val423Met Uncertain significance ★★ ⚠ same residue
- DHTKD1 p.Val423Leu Uncertain significance ★ ⚠ same residue
- DHTKD1 c.2572+1G>A Likely pathogenic ★★ same condition
- DHTKD1 p.Arg410Ter Pathogenic/Likely pathogenic ★★ same condition
- DHTKD1 p.Arg712Ter Pathogenic/Likely pathogenic ★★ same condition
- DHTKD1 p.Trp687Ter Pathogenic/Likely pathogenic ★★ same condition
- DHTKD1 p.Tyr853Ter 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-val423fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown