Is DSP p.Gln1810fs (c.5428del) pathogenic?

DSP p.Gln1810fs (c.5428del) is classified Likely pathogenic in DSP (ClinVar, No assertion criteria, 1 submitter). Absent from gnomAD; Associated with cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis.

What condition is associated with DSP p.Gln1810fs (c.5428del)?

DSP p.Gln1810fs (c.5428del) is associated with cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis (ClinVar).

How common is DSP p.Gln1810fs (c.5428del) in the general population?

DSP p.Gln1810fs (c.5428del) is absent from gnomAD (gnomAD).

How is Erythrokeratodermia-cardiomyopathy syndrome inherited?

Typically Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

DSP p.Gln1810fs

c.5428del · rs2113697846 · VCV1012339

Likely pathogenic No assertion criteria

Classification

Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

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	escapes	premature termination codon in the last exon (24 of 24) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.61	GERP -2.5, 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.Gln1810fs
Coding: c.5428del
MANE Select: NM_004415
dbSNP: rs2113697846
Type: Deletion
Location: chr6:7582690 (GRCh38)
Gene constraint: LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 1810: a UniProt-annotated variant site (in arvd8; uncertain significance); a UniProt-annotated variant site (in dcwhkta; uncertain significance); a UniProt-annotated variant site (in dcwhk; uncertain significance; abolishes expression in the myocardium); the 'central fibrous rod domain' region; the 'binds to telomeres' 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

cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Erythrokeratodermia-cardiomyopathy syndrome (Orphanet):

Inheritance: Not applicable
Onset: Neonatal

Similar variants

DSP p.Asn1346fs Pathogenic/Likely pathogenic ★★ same condition
DSP p.Gln1810Ter Pathogenic ★★ same residue
DSP p.Gln948fs Pathogenic ★★ same condition
DSP p.Leu2031fs Pathogenic ★★ same condition
DSP p.Lys2693fs Pathogenic ★★ same condition
DSP p.Ser1894fs Pathogenic/Likely pathogenic ★★ same condition
DSP p.Ser1588del Uncertain significance ★★ same condition
DSP p.Asp1470fs 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-gln1810fs (accessed [today's date]).

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