Is TMEM237 p.Ser232fs (c.694dup) pathogenic?

TMEM237 p.Ser232fs (c.694dup) is classified Pathogenic in TMEM237 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-04-01). Absent from gnomAD; Associated with Joubert syndrome 14.

What condition is associated with TMEM237 p.Ser232fs (c.694dup)?

TMEM237 p.Ser232fs (c.694dup) is associated with Joubert syndrome 14 (ClinVar).

How common is TMEM237 p.Ser232fs (c.694dup) in the general population?

TMEM237 p.Ser232fs (c.694dup) is absent from gnomAD (gnomAD).

TMEM237 p.Ser232fs

c.694dup · rs2469493635 · VCV2120625

Pathogenic Single submitter

Classification

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

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 9 of 13
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.8	GERP 2.8, phastCons 1

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: TMEM237
Protein: p.Ser232fs
Coding: c.694dup
MANE Select: NM_001044385
dbSNP: rs2469493635
Type: Duplication
Location: chr2:201629404 (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.554-3dup Likely benign ★★ same condition
TMEM237 c.80-18dup Benign/Likely benign ★★ same condition
TMEM237 p.Asn43fs Pathogenic ★ same condition
TMEM237 p.Thr159fs Pathogenic ★ same condition
TMEM237 p.Thr220fs Pathogenic ★ same condition
TMEM237 p.Val204fs Pathogenic ★ same condition
TMEM237 c.553+2dup Uncertain significance ★ same condition
TMEM237 c.553+3dup 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/tmem237-p-ser232fs (accessed [today's date]).

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