Is DSP p.Ile950fs (c.2848dup) pathogenic?

DSP p.Ile950fs (c.2848dup) is classified Pathogenic/Likely pathogenic in DSP (ClinVar, Multiple submitters, 4 submitters; last evaluated 2023-04-24). Absent from gnomAD; Associated with DSP-related disorder.

What condition is associated with DSP p.Ile950fs (c.2848dup)?

DSP p.Ile950fs (c.2848dup) is associated with DSP-related disorder, dilated cardiomyopathy, arrhythmogenic cardiomyopathy with wooly hair and keratoderma (ClinVar).

How common is DSP p.Ile950fs (c.2848dup) in the general population?

DSP p.Ile950fs (c.2848dup) is absent from gnomAD (gnomAD).

DSP p.Ile950fs

c.2848dup · rs397516927 · VCV44885

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

DSP-related disorder

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 20 of 24
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.9	GERP 1.8, phastCons 1

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.Ile950fs
Coding: c.2848dup
MANE Select: NM_004415
dbSNP: rs397516927
Type: Duplication
Location: chr6:7577007 (GRCh38)
Gene constraint: LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 950: a UniProt-annotated variant site (in arvd8; uncertain significance); a UniProt-annotated variant site (in dcwhkta; uncertain significance); the 'globular 1' region; a UniProt-annotated variant site (in arvd8; likely pathogenic; results in an unstable protein that forms perinuclear aggregates); a UniProt-annotated variant site (in arvd8 and dcwhkta; uncertain significance); a UniProt-annotated variant site (in arvd8)

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

Disease context

DSP-related disorder

Also linked: dilated cardiomyopathy arrhythmogenic cardiomyopathy with wooly hair and keratoderma arrhythmogenic right ventricular dysplasia 8 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

Similar variants

DSP p.Ile950Met Conflicting classifications of pathogenicity ★ ⚠ same residue
DSP p.Ile950Phe Uncertain significance ★ ⚠ same residue
DSP p.Ile950Val Likely benign ★ same residue
DSP p.Arg2151fs Pathogenic/Likely pathogenic ★★ same condition
DSP p.Arg2156fs Pathogenic/Likely pathogenic ★★ same condition
DSP p.Asn1865fs Pathogenic ★★ same condition
DSP p.Asn274fs Pathogenic ★★ same condition
DSP p.Asp1248fs 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-ile950fs (accessed [today's date]).

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