Is TTN p.Glu17536del (c.52607_52609del) pathogenic?

TTN p.Glu17536del (c.5260752609del) is classified Uncertain significance in TTN (ClinVar, Multiple submitters, 2 submitters; last evaluated 2020-12-04). Very rare (popmax 0.00017%, nfe); Associated with Cardiovascular phenotype.

What condition is associated with TTN p.Glu17536del (c.52607_52609del)?

TTN p.Glu17536del (c.52607_52609del) is associated with Cardiovascular phenotype, dilated cardiomyopathy 1G, autosomal recessive limb-girdle muscular dystrophy type 2J (ClinVar).

How common is TTN p.Glu17536del (c.52607_52609del) in the general population?

TTN p.Glu17536del (c.52607_52609del) is very rare (popmax 0.00017%, nfe) (gnomAD).

TTN p.Glu17536del

c.52607_52609del · rs755947249 · VCV535589

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00017%, nfe)

Conditions

Cardiovascular phenotype

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 4.8	GERP 2, phastCons 1

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00017% European (non-Finnish) · 2/1,178,886 alleles

Filtering AF 2.8e-05% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.1e-05%

Overall 0.000124% 2/1,611,766 alleles · very rare exomes 2/1,459,686 · genomes 0/152,080 · joint denominator

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: TTN
Protein: p.Glu17536del
Coding: c.52607_52609del
MANE Select: NM_001267550
dbSNP: rs755947249
Type: Deletion
Location: chr2:178608274 (GRCh38)

Full TTN 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

Also linked: dilated cardiomyopathy 1G autosomal recessive limb-girdle muscular dystrophy type 2J

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/ttn-p-glu17536del (accessed [today's date]).

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