RAB5C p.Val70fs
c.207del · VCV4856223
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
RAB5C-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 in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- RAB5C
- Protein
- p.Val70fs
- Coding
- c.207del
- MANE Select
- NM_004583
- Type
- Deletion
- Location
- chr17:42128760 (GRCh38)
- Gene constraint
- LOEUF 0.41 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 85.39 · 1 PDB
- Residue 70
- a β-strand
Disease context
RAB5C-related disorder
Similar variants
- RAB5C p.Arg196Ter Uncertain significance ★ same condition
- RAB5C p.Asp137Asn Uncertain significance ★ ⚠ same condition
- RAB5C p.Gly33Ala Uncertain significance ★ ⚠ same condition
- RAB5C p.Pro10Arg 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/rab5c-p-val70fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown