Is BLTP1 p.Phe231fs (c.692del) pathogenic?

BLTP1 p.Phe231fs (c.692del) is classified Likely pathogenic in BLTP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-10-16). Absent from gnomAD; Associated with clubfoot.

What condition is associated with BLTP1 p.Phe231fs (c.692del)?

BLTP1 p.Phe231fs (c.692del) is associated with clubfoot, arthrogryposis multiplex congenita (ClinVar).

How common is BLTP1 p.Phe231fs (c.692del) in the general population?

BLTP1 p.Phe231fs (c.692del) is absent from gnomAD (gnomAD).

BLTP1 p.Phe231fs

c.692del · rs1741122462 · VCV978675

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

clubfoot

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 88
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	GERP 2.6, 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: BLTP1
Protein: p.Phe231fs
Coding: c.692del
MANE Select: NM_001384125
dbSNP: rs1741122462
Type: Deletion
Location: chr4:122187957 (GRCh38)

Full BLTP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

clubfoot — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: arthrogryposis multiplex congenita

Similar variants

BLTP1 c.3323+1G>A Likely pathogenic ★ same condition
BLTP1 p.Arg1309Gln Likely pathogenic ★ ⚠ same condition
BLTP1 p.Tyr4052His Likely pathogenic ★ same condition
BLTP1 p.Tyr519Ter Pathogenic ★ same condition
BLTP1 p.Arg1832fs Pathogenic ★ same type
BLTP1 p.Arg2623fs Likely pathogenic ★ same type
BLTP1 p.Asp1835fs Pathogenic ★ same type
BLTP1 p.Glu586fs Pathogenic ★ same type

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/bltp1-p-phe231fs (accessed [today's date]).

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