Is CTRC p.Val231fs (c.691del) pathogenic?

CTRC p.Val231fs (c.691del) is classified Likely pathogenic in CTRC (ClinVar, Single submitter, 1 submitter; last evaluated 2026-04-16). Associated with hereditary chronic pancreatitis.

What condition is associated with CTRC p.Val231fs (c.691del)?

CTRC p.Val231fs (c.691del) is associated with hereditary chronic pancreatitis (ClinVar).

CTRC p.Val231fs

Q: How is Autosomal dominant hereditary chronic pancreatitis inherited?

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

c.691del · VCV4869521

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

hereditary chronic pancreatitis

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 7 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5	GERP 0.45, phastCons 1

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

Variant & gene context

Gene: CTRC
Protein: p.Val231fs
Coding: c.691del
MANE Select: NM_007272
Type: Deletion
Location: chr1:15445647 (GRCh38)
Gene constraint: LOEUF 1.147 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 94.03 · 1 PDB
Residue 231: a disulfide bond; the peptidase s1 domain; a β-strand

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

Disease context

hereditary chronic pancreatitis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Autosomal dominant hereditary chronic pancreatitis (Orphanet):

Inheritance: Autosomal dominant
Onset: Adolescent, Childhood
Prevalence: 1-9 / 1 000 000 (France)

Similar variants

CTRC p.Val231Leu Uncertain significance ★★ ⚠ same residue
CTRC p.Val231Met Uncertain significance ★ ⚠ same residue
CTRC p.Lys247_Arg254del Pathogenic ★★ same condition
CTRC p.Ile64fs Pathogenic ★ same condition
CTRC p.Trp191_Trp192insTer Pathogenic ★ same condition
CTRC p.Asp146fs Uncertain significance ★ same condition
CTRC p.Gln44fs Conflicting classifications of pathogenicity ★ same condition
CTRC p.Gly103fs Conflicting classifications of pathogenicity ★ 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/ctrc-p-val231fs (accessed [today's date]).

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