Is DSP p.Glu660fs (c.1978_1979del) pathogenic?

DSP p.Glu660fs (c.19781979del) is classified Pathogenic/Likely pathogenic in DSP (ClinVar, Multiple submitters, 3 submitters; last evaluated 2023-06-20). Absent from gnomAD; Associated with cardiomyopathy.

How common is DSP p.Glu660fs (c.1978_1979del) in the general population?

DSP p.Glu660fs (c.1978_1979del) is absent from gnomAD (gnomAD).

DSP p.Glu660fs

Q: What condition is associated with DSP p.Glu660fs (c.1978_1979del)?

DSP p.Glu660fs (c.1978_1979del) is associated with cardiomyopathy, arrhythmogenic cardiomyopathy with wooly hair and keratoderma, arrhythmogenic right ventricular dysplasia 8 (ClinVar).

c.1978_1979del · rs2533896507 · VCV2775277

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

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 15 of 24
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.091	GERP 0.93, phastCons 0.89

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.Glu660fs
Coding: c.1978_1979del
MANE Select: NM_004415
dbSNP: rs2533896507
Type: Microsatellite
Location: chr6:7571913 (GRCh38)
Gene constraint: LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 660: a UniProt-annotated variant site (in arvd8; uncertain significance); the 'globular 1' region; the 'interaction with mapre1' region; 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); 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

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

Also linked: arrhythmogenic cardiomyopathy with wooly hair and keratoderma arrhythmogenic right ventricular dysplasia 8

Similar variants

DSP c.2131_2132del Pathogenic/Likely pathogenic ★★ same condition
DSP p.Arg1777fs Pathogenic/Likely pathogenic ★★ same condition
DSP p.Arg2394fs Pathogenic ★★ same condition
DSP p.Asn1526_Lys1527insTer Pathogenic/Likely pathogenic ★★ same condition
DSP p.Asn956_Ser957insTer Pathogenic ★★ same condition
DSP p.Asp2117fs Pathogenic/Likely pathogenic ★★ same condition
DSP p.Asp2521fs Pathogenic/Likely pathogenic ★★ same condition
DSP p.Cys2497_Glu2498delinsTer Pathogenic/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-glu660fs (accessed [today's date]).

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