Is OFD1 p.Pro51fs (c.152del) pathogenic?

OFD1 p.Pro51fs (c.152del) is classified Likely pathogenic in OFD1 (ClinVar, Single submitter, 1 submitter; last evaluated 2017-09-08). Associated with OFD1-related disorder.

What condition is associated with OFD1 p.Pro51fs (c.152del)?

OFD1 p.Pro51fs (c.152del) is associated with OFD1-related disorder (ClinVar).

OFD1 p.Pro51fs

c.152del · VCV4948887

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

OFD1-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 3 of 23
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.9	GERP 2.4, phastCons 0.043

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

Variant & gene context

Gene: OFD1
Protein: p.Pro51fs
Coding: c.152del
MANE Select: NM_003611
Type: Deletion
Location: chrX:13736516 (GRCh38)
Structure: AlphaFold pLDDT 68.41

Full OFD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

OFD1-related disorder

Similar variants

OFD1 p.Pro51Leu Uncertain significance ★★ ⚠ same residue
OFD1 p.Ile282fs Likely pathogenic ★ same condition
OFD1 p.Lys336fs Likely pathogenic ★ same condition
OFD1 p.Val431fs Likely pathogenic ★ same condition
OFD1 p.Pro51Ser Uncertain significance ★ ⚠ same residue
OFD1 c.655-8A>G Likely pathogenic ★★ same condition
OFD1 p.Arg909Ter Pathogenic/Likely pathogenic ★★ same condition
OFD1 p.Gln966Ter Pathogenic/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/ofd1-p-pro51fs (accessed [today's date]).

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