Is TTC8 p.Ile67fs (c.201_204del) pathogenic?

TTC8 p.Ile67fs (c.201204del) is classified Likely pathogenic in TTC8 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-07-29). No gnomAD frequency available for this variant; Associated with retinitis pigmentosa 51.

What condition is associated with TTC8 p.Ile67fs (c.201_204del)?

TTC8 p.Ile67fs (c.201_204del) is associated with retinitis pigmentosa 51 (ClinVar).

How common is TTC8 p.Ile67fs (c.201_204del) in the general population?

TTC8 p.Ile67fs (c.201_204del) is no gnomAD frequency available for this variant (gnomAD).

How is Retinitis pigmentosa inherited?

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

TTC8 p.Ile67fs

c.201_204del · rs2546164421 · VCV2679375

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

retinitis pigmentosa 51

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 3 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.1	GERP -0.57, phastCons 0.99

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: TTC8
Protein: p.Ile67fs
Coding: c.201_204del
MANE Select: NM_144596
dbSNP: rs2546164421
Type: Deletion
Location: chr14:88839506 (GRCh38)
Gene constraint: LOEUF 0.8 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 84.48

Full TTC8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

retinitis pigmentosa 51 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Retinitis pigmentosa (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

TTC8 c.624+1_624+2del Likely pathogenic ★★ same condition
TTC8 p.Glu313fs Pathogenic/Likely pathogenic ★★ same condition
TTC8 p.Gly98fs Pathogenic/Likely pathogenic ★★ same condition
TTC8 p.Met305fs Pathogenic/Likely pathogenic ★★ same condition
TTC8 c.1343_1347+17del Pathogenic ★ same condition
TTC8 c.265+1_265+2del Likely pathogenic ★ same condition
TTC8 c.265+1del Likely pathogenic ★ same condition
TTC8 p.Gly284fs 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/ttc8-p-ile67fs (accessed [today's date]).

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