Is COL6A2 p.Val8fs (c.8_21dup) pathogenic?

COL6A2 p.Val8fs (c.821dup) is classified Likely pathogenic in COL6A2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-06). Absent from gnomAD.

How common is COL6A2 p.Val8fs (c.8_21dup) in the general population?

COL6A2 p.Val8fs (c.8_21dup) is absent from gnomAD (gnomAD).

COL6A2 p.Val8fs

c.8_21dup · rs2516988200 · VCV2439448

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 2 of 28
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.6	GERP 1.5, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: COL6A2
Protein: p.Val8fs
Coding: c.8_21dup
MANE Select: NM_001849
dbSNP: rs2516988200
Type: Duplication
Location: chr21:46111477 (GRCh38)
Gene constraint: LOEUF 0.895 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 69.58 · 1 PDB

Full COL6A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

COL6A2 p.Val8Met Conflicting classifications of pathogenicity ★ ⚠ same residue
COL6A2 p.Asn771Lysfs Pathogenic/Likely pathogenic ★★ same type
COL6A2 p.Gln889fs Pathogenic/Likely pathogenic ★★ same type
COL6A2 c.1817-2dup Uncertain significance ★★ same type
COL6A2 c.801+2dup Uncertain significance ★★ same type
COL6A2 p.Ala860_Arg861insGlnGlnValAla Uncertain significance ★★ same type
COL6A2 p.Asp949_Thr952dup Uncertain significance ★★ same type
COL6A2 p.Val984_Thr986dup 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/col6a2-p-val8fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown