Is DSP p.Asp54fs (c.160del) pathogenic?

DSP p.Asp54fs (c.160del) is classified Pathogenic in DSP (ClinVar, Single submitter, 1 submitter; last evaluated 2024-09-30). Associated with Cardiovascular phenotype.

What condition is associated with DSP p.Asp54fs (c.160del)?

DSP p.Asp54fs (c.160del) is associated with Cardiovascular phenotype (ClinVar).

DSP p.Asp54fs

c.160del · VCV3505493

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Cardiovascular phenotype

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 1 of 24
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.3	GERP 2.1, phastCons 1

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

Variant & gene context

Gene: DSP
Protein: p.Asp54fs
Coding: c.160del
MANE Select: NM_004415
Type: Deletion
Location: chr6:7542074 (GRCh38)
Gene constraint: LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 54: the 'globular 1' region; the 'interaction with mapre1' region; the 'interaction with jup and pkp2' region

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

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DSP p.Ala2092fs Pathogenic/Likely pathogenic ★★ same condition
DSP p.Arg1173fs Pathogenic ★★ same condition
DSP p.Gln2730fs Pathogenic/Likely pathogenic ★★ same condition
DSP p.Gln884fs Pathogenic ★★ same condition
DSP p.Glu1337fs Pathogenic/Likely pathogenic ★★ same condition
DSP p.Glu1461_Ser1462insTer Pathogenic/Likely pathogenic ★★ same condition
DSP p.Glu584fs Pathogenic/Likely pathogenic ★★ same condition
DSP p.Leu2031fs 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-asp54fs (accessed [today's date]).

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