Is TTN p.Asp29932= (c.89796C>T) pathogenic?

TTN p.Asp29932= (c.89796C>T) is classified Likely benign in TTN (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-08-11). Ultra-rare (popmax 0.0107%, afr); Associated with Cardiovascular phenotype.

What condition is associated with TTN p.Asp29932= (c.89796C>T)?

TTN p.Asp29932= (c.89796C>T) is associated with Cardiovascular phenotype, dilated cardiomyopathy 1G, autosomal recessive limb-girdle muscular dystrophy type 2J (ClinVar).

How common is TTN p.Asp29932= (c.89796C>T) in the general population?

TTN p.Asp29932= (c.89796C>T) is ultra-rare (popmax 0.0107%, afr) (gnomAD).

TTN p.Asp29932=

c.89796C>T · rs376478710 · VCV695919

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0107%, afr)

Conditions

Cardiovascular phenotype

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 0.35	GERP -5.9, phastCons 0.67
Overall
CADD	0.024	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0107% African / African-American · 8/74,982 alleles

Filtering AF 0.00528% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0038%

Overall 0.00136% 22/1,611,722 alleles · ultra-rare exomes 17/1,459,414 · genomes 5/152,308 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0107%	9,373
Remaining individualsnot grpmax-eligible	0.00321%	31,198
European (non-Finnish)	0.00102%	98,187

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.Asp29932=
Coding: c.89796C>T
MANE Select: NM_001267550
dbSNP: rs376478710
Type: single nucleotide variant
Location: chr2:178553104 (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-asp29932 (accessed [today's date]).

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