Is COL6A1 p.Ser932= (c.2796C>T) pathogenic?

COL6A1 p.Ser932= (c.2796C>T) is classified Benign in COL6A1 (ClinVar, Multiple submitters, 12 submitters; last evaluated 2026-02-03). Common (popmax 41.1%, afr) — too common for a highly-penetrant pathogenic allele; Associated with Ullrich congenital muscular dystrophy 1A.

What condition is associated with COL6A1 p.Ser932= (c.2796C>T)?

COL6A1 p.Ser932= (c.2796C>T) is associated with Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A, collagen 6-related myopathy (ClinVar).

How is Ullrich congenital muscular dystrophy inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

COL6A1 p.Ser932=

Q: How common is COL6A1 p.Ser932= (c.2796C>T) in the general population?

COL6A1 p.Ser932= (c.2796C>T) is common (popmax 41.1%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.2796C>T · rs1053320 · VCV93870

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 12 submitters

gnomAD v4.1

Common

common (popmax 41.1%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

Ullrich congenital muscular dystrophy 1A

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 -20	GERP -3.2
Overall
CADD	0.038	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 41.1% African / African-American · 30,856/75,036 alleles

Filtering AF 40.7% ClinGen BA1/BS1 input FAF95, joint · FAF99 40.6%

Overall 28.8% 464,544/1,612,542 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	41.1%	2
European (non-Finnish)	29.6%	3
Admixed American	29.3%	3
Remaining individualsnot grpmax-eligible	26.8%	4
Finnishnot grpmax-eligible	25.1%	4
Ashkenazi Jewishnot grpmax-eligible	22%	5
Middle Eastern	21.3%	5
South Asian	20.6%	5
East Asian	18%	6
Amishnot grpmax-eligible	16.7%	6

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: COL6A1
Protein: p.Ser932=
Coding: c.2796C>T
MANE Select: NM_001848
dbSNP: rs1053320
Type: single nucleotide variant
Location: chr21:46003722 (GRCh38)
Gene constraint: LOEUF 0.706 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 71.28 · 1 PDB
Residue 932: the vwfa 3 domain; the 'c-terminal globular domain' region

Full COL6A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Ullrich congenital muscular dystrophy 1A — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Bethlem myopathy 1A collagen 6-related myopathy

For Ullrich congenital muscular dystrophy (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (United Kingdom)

Similar variants

COL6A1 c.1002+1G>A Pathogenic ★★ same condition
COL6A1 c.1003-1G>A Pathogenic ★★ same condition
COL6A1 c.1003-2A>C Pathogenic ★★ same condition
COL6A1 c.1003-2A>G Pathogenic ★★ same condition
COL6A1 c.1056+1G>A Pathogenic/Likely pathogenic ★★ same condition
COL6A1 c.1056+1G>C Pathogenic ★★ same condition
COL6A1 c.1056+2T>A Pathogenic/Likely pathogenic ★★ same condition
COL6A1 c.1056+5G>A Pathogenic/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/col6a1-p-ser932 (accessed [today's date]).

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