Is DSP p.Arg265fs (c.793_794del) pathogenic?

DSP p.Arg265fs (c.793794del) is classified Pathogenic in DSP (ClinVar, Single submitter, 1 submitter; last evaluated 2022-06-01). Absent from gnomAD; Associated with arrhythmogenic right ventricular cardiomyopathy.

What condition is associated with DSP p.Arg265fs (c.793_794del)?

DSP p.Arg265fs (c.793_794del) is associated with arrhythmogenic right ventricular cardiomyopathy (ClinVar).

How common is DSP p.Arg265fs (c.793_794del) in the general population?

DSP p.Arg265fs (c.793_794del) is absent from gnomAD (gnomAD).

DSP p.Arg265fs

c.793_794del · rs2113669181 · VCV1693214

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

arrhythmogenic right ventricular cardiomyopathy

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 haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 7 of 24
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -4.3	GERP -4

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: DSP
Protein: p.Arg265fs
Coding: c.793_794del
MANE Select: NM_004415
dbSNP: rs2113669181
Type: Microsatellite
Location: chr6:7565371 (GRCh38)
Gene constraint: LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 265: an α-helix; the 'globular 1' region; the 'interaction with mapre1' region; the 'interaction with jup and pkp2' region; the 'interaction with pkp1' region; a UniProt-annotated variant site (in arvd8; uncertain significance); a UniProt-annotated variant site (in dcwhkta; uncertain significance); a UniProt-annotated variant site (in arvd8; likely pathogenic; results in an unstable protein that forms perinuclear aggregates)

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

Disease context

arrhythmogenic right ventricular cardiomyopathy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DSP p.Arg2394fs Pathogenic ★★ same condition
DSP p.Gly2319fs Pathogenic/Likely pathogenic ★★ same condition
DSP p.Glu1068fs Pathogenic ★ same condition
DSP p.Ile71fs Likely pathogenic ★ same condition
DSP p.Arg265Lys Conflicting classifications of pathogenicity ★ ⚠ same residue
DSP p.Arg265Ser Uncertain significance ★ ⚠ same residue
DSP c.1141-2A>T Likely pathogenic ★★ same condition
DSP c.2437-1G>C 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/dsp-p-arg265fs (accessed [today's date]).

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