Is OFD1 p.Arg205fs (c.614_617del) pathogenic?

OFD1 p.Arg205fs (c.614617del) is classified Pathogenic/Likely pathogenic in OFD1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-05-02). No gnomAD frequency available for this variant; Associated with orofaciodigital syndrome I.

What condition is associated with OFD1 p.Arg205fs (c.614_617del)?

OFD1 p.Arg205fs (c.614_617del) is associated with orofaciodigital syndrome I (ClinVar).

How common is OFD1 p.Arg205fs (c.614_617del) in the general population?

OFD1 p.Arg205fs (c.614_617del) is no gnomAD frequency available for this variant (gnomAD).

OFD1 p.Arg205fs

c.614_617del · rs312262840 · VCV3065251

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

orofaciodigital syndrome I

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 7 of 23
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.2	GERP 2.5, 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: OFD1
Protein: p.Arg205fs
Coding: c.614_617del
MANE Select: NM_003611
dbSNP: rs312262840
Type: Microsatellite
Location: chrX:13746412 (GRCh38)
Structure: AlphaFold pLDDT 68.41

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

Disease context

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

Similar variants

OFD1 p.Gln398fs Pathogenic ★★ same condition
OFD1 p.Gln423fs Pathogenic ★★ same condition
OFD1 p.Glu206fs Pathogenic ★★ same condition
OFD1 p.Ile930fs Pathogenic ★★ same condition
OFD1 p.Met293fs Pathogenic ★★ same condition
OFD1 p.Ser660fs Pathogenic ★★ same condition
OFD1 p.Glu395del Uncertain significance ★★ same condition
OFD1 p.Glu823del 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/ofd1-p-arg205fs (accessed [today's date]).

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