Is DSP p.Ala164fs (c.491_492delinsAGCTCGAGTCCCTCG) pathogenic?

DSP p.Ala164fs (c.491492delinsAGCTCGAGTCCCTCG) is classified Likely pathogenic in DSP (ClinVar, Single submitter, 1 submitter; last evaluated 2013-08-23). Absent from gnomAD; Associated with dilated cardiomyopathy.

What condition is associated with DSP p.Ala164fs (c.491_492delinsAGCTCGAGTCCCTCG)?

DSP p.Ala164fs (c.491_492delinsAGCTCGAGTCCCTCG) is associated with dilated cardiomyopathy (ClinVar).

How common is DSP p.Ala164fs (c.491_492delinsAGCTCGAGTCCCTCG) in the general population?

DSP p.Ala164fs (c.491_492delinsAGCTCGAGTCCCTCG) is absent from gnomAD (gnomAD).

DSP p.Ala164fs

c.491_492delinsAGCTCGAGTCCCTCG · rs727504738 · VCV179249

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

dilated 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 4 of 24
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.7	GERP 1.3, 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.Ala164fs
Coding: c.491_492delinsAGCTCGAGTCCCTCG
MANE Select: NM_004415
dbSNP: rs727504738
Type: Indel
Location: chr6:7559294 (GRCh38)
Gene constraint: LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 164: the 'globular 1' region; the 'interaction with mapre1' region; the 'interaction with jup and pkp2' region; a UniProt-annotated variant site (in arvd8; uncertain significance); a UniProt-annotated variant site (in dcwhkta; uncertain significance)

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

Disease context

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

Similar variants

DSP p.Ala164Thr Uncertain significance ★ ⚠ same residue
DSP p.Ala164= Likely benign ★ same residue
DSP c.2130+1G>A Pathogenic/Likely pathogenic ★★ same condition
DSP c.939+1G>A Pathogenic/Likely pathogenic ★★ same condition
DSP p.Arg1045Ter Pathogenic/Likely pathogenic ★★ same condition
DSP p.Arg1267Ter Pathogenic/Likely pathogenic ★★ same condition
DSP p.Arg160Ter Pathogenic/Likely pathogenic ★★ same condition
DSP p.Arg1934Ter 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-ala164fs (accessed [today's date]).

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