Is TTN p.Glu26558fs (c.79673del) pathogenic?

TTN p.Glu26558fs (c.79673del) is classified Likely pathogenic in TTN (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-23). No gnomAD frequency available for this variant; Associated with TTN-related disorder.

What condition is associated with TTN p.Glu26558fs (c.79673del)?

TTN p.Glu26558fs (c.79673del) is associated with TTN-related disorder (ClinVar).

How common is TTN p.Glu26558fs (c.79673del) in the general population?

TTN p.Glu26558fs (c.79673del) is no gnomAD frequency available for this variant (gnomAD).

TTN p.Glu26558fs

c.79673del · rs2468286272 · VCV2431482

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

TTN-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 326 of 363
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.9	GERP -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: TTN
Protein: p.Glu26558fs
Coding: c.79673del
MANE Select: NM_001267550
dbSNP: rs2468286272
Type: Deletion
Location: chr2:178566459 (GRCh38)
Gene constraint: LOEUF 0.479 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
Residue 26558: the fibronectin type-iii 93 domain

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

Disease context

TTN-related disorder

Similar variants

TTN p.Ala27689fs Pathogenic/Likely pathogenic ★★ same condition
TTN p.Ala29853fs Likely pathogenic ★★ same condition
TTN p.Arg15218_Val15219insTer Likely pathogenic ★★ same condition
TTN p.Arg30664fs Likely pathogenic ★★ same condition
TTN p.Asn15764fs Likely pathogenic ★★ same condition
TTN p.Glu21366fs Likely pathogenic ★★ same condition
TTN p.Glu27315fs Pathogenic/Likely pathogenic ★★ same condition
TTN p.Gly27513fs 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/ttn-p-glu26558fs (accessed [today's date]).

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