Is TCAP p.Met99Val (c.294_295delinsAG) pathogenic?

TCAP p.Met99Val (c.294295delinsAG) is classified Uncertain significance in TCAP (ClinVar, Multiple submitters, 4 submitters; last evaluated 2026-04-06). No gnomAD frequency available for this variant; Associated with familial hypertrophic cardiomyopathy.

What condition is associated with TCAP p.Met99Val (c.294_295delinsAG)?

TCAP p.Met99Val (c.294_295delinsAG) is associated with familial hypertrophic cardiomyopathy, dilated cardiomyopathy, autosomal recessive limb-girdle muscular dystrophy type 2G (ClinVar).

How common is TCAP p.Met99Val (c.294_295delinsAG) in the general population?

TCAP p.Met99Val (c.294_295delinsAG) is no gnomAD frequency available for this variant (gnomAD).

TCAP p.Met99Val

c.294_295delinsAG · rs2057251619 · VCV1036986

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 4.4	GERP 0.39, phastCons 1
Regional constraint	o/e 0.95	unconstrained · MANE · 746 bp · p 0.44 · regional, not allelic

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: TCAP
Protein: p.Met99Val
Coding: c.294_295delinsAG
MANE Select: NM_003673
dbSNP: rs2057251619
Type: Indel
Location: chr17:39665899 (GRCh38)
Gene constraint: LOEUF 1.374 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.89 · 2 PDB

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: dilated cardiomyopathy autosomal recessive limb-girdle muscular dystrophy type 2G hypertrophic cardiomyopathy 25

Similar variants

TCAP p.Arg17Pro Uncertain significance ★★ same condition
TCAP p.Ala151Asp Uncertain significance ★ same condition
TCAP p.Leu152Phe Uncertain significance ★ same condition
TCAP p.Thr137fs Uncertain significance ★ same condition
TCAP c.110_110+1del Pathogenic ★★ same condition
TCAP c.110+5G>T Likely pathogenic ★★ same condition
TCAP p.Arg17delinsLeuTer Pathogenic/Likely pathogenic ★★ same condition
TCAP p.Cys57Ter 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/tcap-p-met99val (accessed [today's date]).

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