Is TRDN p.Lys192fs (c.573dup) pathogenic?

TRDN p.Lys192fs (c.573dup) is classified Pathogenic in TRDN (ClinVar, Single submitter, 1 submitter; last evaluated 2017-08-17). No allele count reported in gnomAD v4.1 (AN 1,506,914); Associated with catecholaminergic polymorphic ventricular tachycardia 1.

What condition is associated with TRDN p.Lys192fs (c.573dup)?

TRDN p.Lys192fs (c.573dup) is associated with catecholaminergic polymorphic ventricular tachycardia 1 (ClinVar).

How common is TRDN p.Lys192fs (c.573dup) in the general population?

TRDN p.Lys192fs (c.573dup) is no allele count reported in gnomAD v4.1 (AN 1,506,914) (gnomAD).

TRDN p.Lys192fs

Q: How is Inherited isolated arrhythmogenic cardiomyopathy inherited?

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

c.573dup · rs1554251609 · VCV532312

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,506,914)

Conditions

catecholaminergic polymorphic ventricular tachycardia 1

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 41
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.1	GERP 2.1, phastCons 1

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

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,506,914). 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: TRDN
Protein: p.Lys192fs
Coding: c.573dup
MANE Select: NM_006073
dbSNP: rs1554251609
Type: Duplication
Location: chr6:123512339 (GRCh38)
Gene constraint: LOEUF 1.359 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 47.65
Residue 192: the 'disordered' region

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

Disease context

catecholaminergic polymorphic ventricular tachycardia 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Inherited isolated arrhythmogenic cardiomyopathy (Orphanet):

Inheritance: Autosomal dominant
Onset: No data available

Similar variants

TRDN p.Lys192Thr Uncertain significance ★★ ⚠ same residue
TRDN p.Lys192= Likely benign ★★ same residue
TRDN p.Ile190fs Pathogenic/Likely pathogenic ★★ same condition
TRDN p.Thr99fs Pathogenic ★★ same condition
TRDN p.Lys412fs Uncertain significance ★★ same condition
TRDN p.Thr573fs Uncertain significance ★★ same condition
TRDN c.1598-6dup Benign/Likely benign ★★ same condition
TRDN c.1805-21_1805-20dup 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/trdn-p-lys192fs (accessed [today's date]).

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