Is CASQ2 p.Arg3fs (c.9_10del) pathogenic?

CASQ2 p.Arg3fs (c.910del) is classified Likely pathogenic in CASQ2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-12-29). Associated with catecholaminergic polymorphic ventricular tachycardia 2.

What condition is associated with CASQ2 p.Arg3fs (c.9_10del)?

CASQ2 p.Arg3fs (c.9_10del) is associated with catecholaminergic polymorphic ventricular tachycardia 2 (ClinVar).

CASQ2 p.Arg3fs

Q: How is Catecholaminergic polymorphic ventricular tachycardia inherited?

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

c.9_10del · VCV3575685

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

catecholaminergic polymorphic ventricular tachycardia 2

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 1 of 11
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.3	GERP -1.7, phastCons 1

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

Variant & gene context

Gene: CASQ2
Protein: p.Arg3fs
Coding: c.9_10del
MANE Select: NM_001232
Type: Deletion
Location: chr1:115768532 (GRCh38)
Gene constraint: LOEUF 1.322 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 90.63 · 4 PDB

Full CASQ2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

catecholaminergic polymorphic ventricular tachycardia 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Catecholaminergic polymorphic ventricular tachycardia (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

CASQ2 p.Gln71fs Pathogenic/Likely pathogenic ★★ same condition
CASQ2 p.Phe182fs Pathogenic/Likely pathogenic ★★ same condition
CASQ2 p.Ser113fs Pathogenic ★★ same condition
CASQ2 p.Glu377del Uncertain significance ★★ same condition
CASQ2 c.738-11_738-5del Benign/Likely benign ★★ same condition
CASQ2 c.738-12_738-5del Benign/Likely benign ★★ same condition
CASQ2 c.738-5del Benign ★★ same condition
CASQ2 c.738-6_738-5del Benign ★★ 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/casq2-p-arg3fs (accessed [today's date]).

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