Is CHD3 p.Ala191fs (c.571del) pathogenic?

CHD3 p.Ala191fs (c.571del) is classified Likely pathogenic in CHD3 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-06-11). Associated with Snijders Blok-Campeau syndrome.

What condition is associated with CHD3 p.Ala191fs (c.571del)?

CHD3 p.Ala191fs (c.571del) is associated with Snijders Blok-Campeau syndrome (ClinVar).

CHD3 p.Ala191fs

c.571del · VCV3338555

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Snijders Blok-Campeau syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 5 of 40
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.38	GERP -2.2, phastCons 0.11

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

Variant & gene context

Gene: CHD3
Protein: p.Ala191fs
Coding: c.571del
MANE Select: NM_001005273
Type: Deletion
Location: chr17:7893344 (GRCh38)
Gene constraint: LOEUF 0.257 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 63.21

Full CHD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Snijders Blok-Campeau syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CHD3 p.Arg1381fs Likely pathogenic ★ same condition
CHD3 p.Glu519fs Likely pathogenic ★ same condition
CHD3 p.Phe551fs Pathogenic ★ same condition
CHD3 c.4357_4358+2del Conflicting classifications of pathogenicity ★ ⚠ same condition
CHD3 p.Asp1671fs Conflicting classifications of pathogenicity ★ ⚠ same condition
CHD3 p.Ile20fs Uncertain significance ★ same condition
CHD3 p.Pro710fs Uncertain significance ★ same condition
CHD3 c.4073-3_4078del 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/chd3-p-ala191fs (accessed [today's date]).

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