Is DSP p.Asp1733Thr (c.5197_5198delinsAC) pathogenic?

DSP p.Asp1733Thr (c.51975198delinsAC) is classified Uncertain significance in DSP (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-06). Absent from gnomAD; Associated with cardiomyopathy.

What condition is associated with DSP p.Asp1733Thr (c.5197_5198delinsAC)?

DSP p.Asp1733Thr (c.5197_5198delinsAC) is associated with cardiomyopathy (ClinVar).

How common is DSP p.Asp1733Thr (c.5197_5198delinsAC) in the general population?

DSP p.Asp1733Thr (c.5197_5198delinsAC) is absent from gnomAD (gnomAD).

DSP p.Asp1733Thr

c.5197_5198delinsAC · rs2113695804 · VCV1172160

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.8, phastCons 1
Regional constraint	o/e 0.93	unconstrained · MANE · 12 kb · p 0.0024 · regional, not allelic

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.Asp1733Thr
Coding: c.5197_5198delinsAC
MANE Select: NM_004415
dbSNP: rs2113695804
Type: Indel
Location: chr6:7581387 (GRCh38)
Gene constraint: LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 1733: 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 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DSP p.Asp1733Asn Conflicting classifications of pathogenicity ★ ⚠ same residue
DSP p.Asp1733Gly Uncertain significance ★ ⚠ same residue
DSP c.2793+1_2793+5delinsAACAAAAAG Likely pathogenic ★★ same condition
DSP c.274-8_274-7delinsAT Uncertain significance ★★ same condition
DSP p.Glu1369_Ile1370delinsAspVal Uncertain significance ★★ same condition
DSP p.Gly171Glu Uncertain significance ★★ same condition
DSP p.Ile580Leu Uncertain significance ★★ same condition
DSP p.Pro2099Ile Uncertain significance ★★ 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-asp1733thr (accessed [today's date]).

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