SDHC p.Pro64fs
c.191_207del · VCV3602768
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
hereditary pheochromocytoma-paraganglioma
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 0.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- SDHC
- Protein
- p.Pro64fs
- Coding
- c.191_207del
- MANE Select
- NM_003001
- Type
- Deletion
- Location
- chr1:161340603 (GRCh38)
- Gene constraint
- LOEUF 0.892 · pLI 0.05 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 91.05 · 2 PDB
- Residue 64
- an α-helix
Disease context
hereditary pheochromocytoma-paraganglioma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hereditary pheochromocytoma-paraganglioma (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Childhood
- Prevalence
- 1-9 / 1 000 000 (Worldwide)
Similar variants
- SDHC p.Trp61fs Pathogenic ★★ same condition
- SDHC p.Pro64Leu Uncertain significance ★★ ⚠ same residue
- SDHC c.242-9del Benign/Likely benign ★★ same condition
- SDHC c.21-3_22del Likely pathogenic ★ same condition
- SDHC p.Pro64Ser Uncertain significance ★ ⚠ same residue
- SDHC p.Met136_Ter170delinsXaa Pathogenic same condition
- SDHC c.179+1G>C Likely pathogenic ★★ same condition
- SDHC c.20+1G>T 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/sdhc-p-pro64fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown