SDHC c.244dupG
Pathogenic
Multiple submitters
Classification
Pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
Conditions
3
pheochromocytoma/paraganglioma syndrome 3
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 11 | GERP 1.4, phastCons 1 |
| Non-coding constraint | Z -0.94 | 1 kb window · o/e 1.07 · regional · uncalibrated |
Variant & gene context
- Gene
- SDHC
- Coding
- c.244dupG
- MANE Select
- NM_003001
- Type
- Duplication
- Location
- chr1:161356675 (GRCh38)
- Gene constraint
- LOEUF 0.892 · pLI 0.05 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 91.05 · 2 PDB
Similar variants
- SDHC p.Ala34fs Pathogenic ★★ same condition
- SDHC p.Arg7Ter Pathogenic/Likely pathogenic ★★ same condition
- SDHC p.Gly94fs Pathogenic/Likely pathogenic ★★ same condition
- SDHC p.His8fs Pathogenic ★★ same condition
- SDHC p.Leu78fs Pathogenic ★★ same condition
- SDHC c.21-22_30dup Uncertain significance ★★ same condition
- SDHC c.20+11_20+12dup Benign/Likely benign ★★ same condition
- SDHC c.21-10dup 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/sdhc-c-244dupg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown