ETFDH p.Pro508=
c.1524A>C · VCV4067446
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Glutaric acidemia type 2C
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.011 | GERP -4.4, phastCons 0.04 |
| Overall | ||
| CADD | 4.812 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ETFDH
- Protein
- p.Pro508=
- Coding
- c.1524A>C
- MANE Select
- NM_004453
- Type
- single nucleotide variant
- Location
- chr4:158706684 (GRCh38)
- Gene constraint
- LOEUF 1.126 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.60
Disease context
Glutaric acidemia type 2C
Similar variants
- ETFDH p.Pro508Thr Pathogenic ★ ⚠ same residue
- ETFDH c.1116+2T>C Likely pathogenic ★★ same condition
- ETFDH c.1469-1G>T Likely pathogenic ★★ same condition
- ETFDH c.1690+2T>G Pathogenic/Likely pathogenic ★★ same condition
- ETFDH c.1691-3C>G Pathogenic/Likely pathogenic ★★ same condition
- ETFDH c.176-2A>T Pathogenic/Likely pathogenic ★★ same condition
- ETFDH c.405+3A>T Pathogenic/Likely pathogenic ★★ same condition
- ETFDH c.606+1G>A 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/etfdh-p-pro508 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown