Is TCAP p.Ala151Asp (c.452_453delinsAC) pathogenic?

TCAP p.Ala151Asp (c.452453delinsAC) is classified Uncertain significance in TCAP (ClinVar, Single submitter, 1 submitter; last evaluated 2024-06-26). Associated with familial hypertrophic cardiomyopathy.

What condition is associated with TCAP p.Ala151Asp (c.452_453delinsAC)?

TCAP p.Ala151Asp (c.452_453delinsAC) is associated with familial hypertrophic cardiomyopathy, hypertrophic cardiomyopathy 25 (ClinVar).

TCAP p.Ala151Asp

c.452_453delinsAC · VCV3757002

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

familial hypertrophic cardiomyopathy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.9	GERP 2.6, phastCons 0.99
Regional constraint	o/e 0.95	unconstrained · MANE · 746 bp · p 0.44 · regional, not allelic

Variant & gene context

Gene: TCAP
Protein: p.Ala151Asp
Coding: c.452_453delinsAC
MANE Select: NM_003673
Type: Indel
Location: chr17:39666057 (GRCh38)
Gene constraint: LOEUF 1.374 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.89 · 2 PDB
Residue 151: the 'disordered' region

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

Disease context

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

Also linked: hypertrophic cardiomyopathy 25

Similar variants

TCAP p.Ala151fs Uncertain significance ★ same residue
TCAP p.Arg17Pro Uncertain significance ★★ same condition
TCAP p.Met99Val Uncertain significance ★★ same condition
TCAP p.Ala151Gly Uncertain significance ★ ⚠ same residue
TCAP p.Ala151Val Uncertain significance ★ ⚠ same residue
TCAP p.Leu152Phe Uncertain significance ★ same condition
TCAP p.Thr137fs Uncertain significance ★ same condition
TCAP p.Ala151= Benign ★ same residue

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/tcap-p-ala151asp (accessed [today's date]).

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