Is TTN p.Asp16111fs (c.48332_48339delinsTGAT) pathogenic?

TTN p.Asp16111fs (c.4833248339delinsTGAT) is classified Likely pathogenic in TTN (ClinVar, Single submitter, 1 submitter). Associated with hypertrophic cardiomyopathy 9.

What condition is associated with TTN p.Asp16111fs (c.48332_48339delinsTGAT)?

TTN p.Asp16111fs (c.48332_48339delinsTGAT) is associated with hypertrophic cardiomyopathy 9, tibial muscular dystrophy, myopathy, myofibrillar, 9, with early respiratory failure (ClinVar).

TTN p.Asp16111fs

c.48332_48339delinsTGAT · VCV3382825

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

hypertrophic cardiomyopathy 9

⚠ 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.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 3.5	GERP -0.81, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: TTN
Protein: p.Asp16111fs
Coding: c.48332_48339delinsTGAT
MANE Select: NM_001267550
Type: Indel
Location: chr2:178615762 (GRCh38)

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

Disease context

hypertrophic cardiomyopathy 9 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: tibial muscular dystrophy myopathy, myofibrillar, 9, with early respiratory failure dilated cardiomyopathy 1G autosomal recessive limb-girdle muscular dystrophy type 2J early-onset myopathy with fatal cardiomyopathy

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-asp16111fs (accessed [today's date]).

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