Is TTC8 p.Glu313fs (c.936del) pathogenic?

TTC8 p.Glu313fs (c.936del) is classified Pathogenic/Likely pathogenic in TTC8 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2023-03-02). Absent from gnomAD; Associated with Bardet-Biedl syndrome.

What condition is associated with TTC8 p.Glu313fs (c.936del)?

TTC8 p.Glu313fs (c.936del) is associated with Bardet-Biedl syndrome, retinitis pigmentosa 51 (ClinVar).

How common is TTC8 p.Glu313fs (c.936del) in the general population?

TTC8 p.Glu313fs (c.936del) is absent from gnomAD (gnomAD).

How is Bardet-Biedl syndrome inherited?

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

TTC8 p.Glu313fs

c.936del · rs2546230995 · VCV2126790

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Bardet-Biedl syndrome

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 11 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.9	GERP 0.86, phastCons 0.95

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.Glu313fs
Coding: c.936del
MANE Select: NM_144596
dbSNP: rs2546230995
Type: Deletion
Location: chr14:88870085 (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

Bardet-Biedl syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: retinitis pigmentosa 51

For Bardet-Biedl syndrome (Orphanet):

Inheritance: Autosomal recessive, Oligogenic
Onset: Antenatal, Childhood, Infancy, Neonatal
Prevalence: 1-9 / 100 000 (Specific population)

Similar variants

TTC8 c.1049+2_1049+4del Pathogenic ★★ same condition
TTC8 c.624+1_624+2del Likely pathogenic ★★ same condition
TTC8 p.Arg300_Ile301insTer Pathogenic/Likely pathogenic ★★ same condition
TTC8 p.Cys23fs Pathogenic/Likely pathogenic ★★ same condition
TTC8 p.Gly98fs Pathogenic/Likely pathogenic ★★ same condition
TTC8 p.Met305fs Pathogenic/Likely pathogenic ★★ same condition
TTC8 c.266-10del Likely benign ★★ same condition
TTC8 c.1343_1347+17del 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-glu313fs (accessed [today's date]).

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