Is TBC1D24 p.Pro366= (c.1098C>T) pathogenic?

TBC1D24 p.Pro366= (c.1098C>T) is classified Uncertain significance in TBC1D24 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-13). No allele count reported in gnomAD v4.1 (AN 1,609,946); Associated with familial infantile myoclonic epilepsy.

What condition is associated with TBC1D24 p.Pro366= (c.1098C>T)?

TBC1D24 p.Pro366= (c.1098C>T) is associated with familial infantile myoclonic epilepsy (ClinVar).

How common is TBC1D24 p.Pro366= (c.1098C>T) in the general population?

TBC1D24 p.Pro366= (c.1098C>T) is no allele count reported in gnomAD v4.1 (AN 1,609,946) (gnomAD).

How is Familial infantile myoclonic epilepsy inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

TBC1D24 p.Pro366=

c.1098C>T · rs2065761906 · VCV885381

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,609,946)

Conditions

familial infantile myoclonic epilepsy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -1.3	GERP -3.2
Overall
CADD	2.429	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,609,946). 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: TBC1D24
Protein: p.Pro366=
Coding: c.1098C>T
MANE Select: NM_001199107
dbSNP: rs2065761906
Type: single nucleotide variant
Location: chr16:2498352 (GRCh38)
Gene constraint: LOEUF 1.214 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.46
Residue 366: the tldc domain

Full TBC1D24 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

familial infantile myoclonic epilepsy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial infantile myoclonic epilepsy (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

TBC1D24 p.Pro366Leu Uncertain significance ★ ⚠ same residue
TBC1D24 p.Ala289Val Likely pathogenic ★★ same condition
TBC1D24 p.Ala39Val Pathogenic ★★ ⚠ same condition
TBC1D24 p.Asp147His Pathogenic ★★ same condition
TBC1D24 p.Gln207Ter Pathogenic/Likely pathogenic ★★ same condition
TBC1D24 p.Glu153Lys Pathogenic/Likely pathogenic ★★ same condition
TBC1D24 c.-4C>T Uncertain significance ★★ same condition
TBC1D24 c.*3243C>T Uncertain significance ★★ 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/tbc1d24-p-pro366 (accessed [today's date]).

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