COL6A3 c.8467=
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 3.9 | GERP 0.18, phastCons 1 |
| Non-coding constraint | Z 2.50 | 1 kb window · o/e 0.82 · regional · uncalibrated |
Variant & gene context
- Gene
- COL6A3
- Coding
- c.8467=
- MANE Select
- NM_004369
- Type
- Indel
- Location
- chr2:237339115 (GRCh38)
- Gene constraint
- LOEUF 0.564 · pLI <0.01 (gnomAD)
Similar variants
- COL6A3 p.Ser1878Pro Uncertain significance ★★ same type
- COL6A3 p.Ser599Ile Uncertain significance ★★ same type
- COL6A3 c.1313-442_1595delinsGCAAC Likely pathogenic ★ same type
- COL6A3 p.Gly2068fs Likely pathogenic ★ same type
- COL6A3 p.Ala368Ile Uncertain significance ★ same type
- COL6A3 p.Asn1093Arg Uncertain significance ★ same type
- COL6A3 p.Gln1217Leu Uncertain significance ★ same type
- COL6A3 p.Gln1907_Pro1908delinsSerArgCysSerArgSerSerGlyThrCysAla Uncertain significance ★ same type
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/col6a3-c-8467 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown