DKC1 p.Leu72Tyr
c.214_215delinsTA · rs121912294 · VCV11585
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
dyskeratosis congenita, X-linked
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 5.1 | GERP 3.9, phastCons 1 |
| Regional constraint | o/e 0.35 | constrained · MANE · 4,035 bp · p 1.8e-12 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DKC1
- Protein
- p.Leu72Tyr
- Coding
- c.214_215delinsTA
- MANE Select
- NM_001363
- dbSNP
- rs121912294
- Type
- Indel
- Location
- chrX:154765949 (GRCh38)
- Structure
- AlphaFold pLDDT 79.74 · 7 PDB
- Residue 72
- a UniProt-annotated variant site (in dkcx); a UniProt-annotated variant site (in dkcx; requires 2 nucleotide substitutions)
Similar variants
- DKC1 p.Ala353Val Pathogenic ★★ ⚠ same condition
- DKC1 p.Ile38Met Likely pathogenic ★★ ⚠ same condition
- DKC1 p.Thr49Met Pathogenic ★★ ⚠ same condition
- DKC1 p.Thr66Ala Pathogenic/Likely pathogenic ★★ ⚠ same condition
- DKC1 p.Gln414Glu Uncertain significance ★★ ⚠ same condition
- DKC1 p.Glu440Lys Uncertain significance ★★ ⚠ same condition
- DKC1 p.Ile163Leu Uncertain significance ★★ ⚠ same condition
- DKC1 p.Ile187Leu Uncertain significance ★★ ⚠ 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/dkc1-p-leu72tyr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown