PEX7 p.Val231=
c.693A>G · rs1582759944 · VCV828091
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
rhizomelic chondrodysplasia punctata
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.5 | GERP -3.8 |
| Overall | ||
| CADD | 2.51 | 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
- PEX7
- Protein
- p.Val231=
- Coding
- c.693A>G
- MANE Select
- NM_000288
- dbSNP
- rs1582759944
- Type
- single nucleotide variant
- Location
- chr6:136869949 (GRCh38)
- Gene constraint
- LOEUF 0.941 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.54
Disease context
rhizomelic chondrodysplasia punctata — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Rhizomelic chondrodysplasia punctata (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Antenatal, Neonatal
- Prevalence
- 1-9 / 1 000 000 (Europe)
Similar variants
- PEX7 c.130+1G>A Pathogenic ★★ same condition
- PEX7 c.188+1G>A Pathogenic/Likely pathogenic ★★ same condition
- PEX7 c.188+1G>C Pathogenic/Likely pathogenic ★★ same condition
- PEX7 c.340-1G>T Likely pathogenic ★★ same condition
- PEX7 c.804-2A>C Pathogenic/Likely pathogenic ★★ same condition
- PEX7 c.903+1G>C Pathogenic ★★ same condition
- PEX7 p.Ala218Val Pathogenic/Likely pathogenic ★★ ⚠ same condition
- PEX7 p.Arg232Ter 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/pex7-p-val231 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown