Is TTN p.Trp14262fs (c.42786del) pathogenic?

TTN p.Trp14262fs (c.42786del) is classified Likely pathogenic in TTN (ClinVar, Single submitter, 1 submitter; last evaluated 2020-08-18). Absent from gnomAD; Associated with Cardiovascular phenotype.

What condition is associated with TTN p.Trp14262fs (c.42786del)?

TTN p.Trp14262fs (c.42786del) is associated with Cardiovascular phenotype (ClinVar).

How common is TTN p.Trp14262fs (c.42786del) in the general population?

TTN p.Trp14262fs (c.42786del) is absent from gnomAD (gnomAD).

TTN p.Trp14262fs

c.42786del · rs2471513686 · VCV1775204

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

Cardiovascular phenotype

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 232 of 363
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.3	GERP 1.6, 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.Trp14262fs
Coding: c.42786del
MANE Select: NM_001267550
dbSNP: rs2471513686
Type: Deletion
Location: chr2:178633573 (GRCh38)
Gene constraint: LOEUF 0.479 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
Residue 14262: the fibronectin type-iii 3 domain

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

Similar variants

TTN c.80003_80028+4del Likely pathogenic ★★ same condition
TTN p.Ala18143fs Likely pathogenic ★★ same condition
TTN p.Ala24870fs Pathogenic/Likely pathogenic ★★ same condition
TTN p.Ala29119fs Pathogenic/Likely pathogenic ★★ same condition
TTN p.Arg13741fs Likely pathogenic ★★ same condition
TTN p.Arg14079fs Likely pathogenic ★★ same condition
TTN p.Arg27948fs Likely pathogenic ★★ same condition
TTN p.Arg28796fs 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/ttn-p-trp14262fs (accessed [today's date]).

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