Is TMEM237 p.Asp149fs (c.445del) pathogenic?

TMEM237 p.Asp149fs (c.445del) is classified Likely pathogenic in TMEM237 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-31). Associated with Joubert syndrome 14.

What condition is associated with TMEM237 p.Asp149fs (c.445del)?

TMEM237 p.Asp149fs (c.445del) is associated with Joubert syndrome 14 (ClinVar).

TMEM237 p.Asp149fs

c.445del · VCV3585242

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Joubert syndrome 14

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 7 of 13
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.2	GERP 2.7, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: TMEM237
Protein: p.Asp149fs
Coding: c.445del
MANE Select: NM_001044385
Type: Deletion
Location: chr2:201632159 (GRCh38)
Gene constraint: LOEUF 1.318 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 63.79

Full TMEM237 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Joubert syndrome 14 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

TMEM237 c.869+1del Pathogenic ★★ same condition
TMEM237 p.Ile202fs Pathogenic/Likely pathogenic ★★ same condition
TMEM237 p.Pro21fs Pathogenic/Likely pathogenic ★★ same condition
TMEM237 p.400KE[1] Uncertain significance ★★ same condition
TMEM237 p.Ala406fs Uncertain significance ★★ same condition
TMEM237 p.Ser392fs Uncertain significance ★★ same condition
TMEM237 c.678-20_678-17del Benign/Likely benign ★★ same condition
TMEM237 c.870-13_870-12del Benign ★★ 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/tmem237-p-asp149fs (accessed [today's date]).

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