Is OFD1 p.Asp80fs (c.237_243delinsGCCTA) pathogenic?

OFD1 p.Asp80fs (c.237243delinsGCCTA) is classified Likely pathogenic in OFD1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-01-03). No gnomAD frequency available for this variant; Associated with orofaciodigital syndrome I.

What condition is associated with OFD1 p.Asp80fs (c.237_243delinsGCCTA)?

OFD1 p.Asp80fs (c.237_243delinsGCCTA) is associated with orofaciodigital syndrome I (ClinVar).

How common is OFD1 p.Asp80fs (c.237_243delinsGCCTA) in the general population?

OFD1 p.Asp80fs (c.237_243delinsGCCTA) is no gnomAD frequency available for this variant (gnomAD).

OFD1 p.Asp80fs

c.237_243delinsGCCTA · rs2146913390 · VCV1333492

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

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 3 of 23
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -4.2	GERP -4.8

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.Asp80fs
Coding: c.237_243delinsGCCTA
MANE Select: NM_003611
dbSNP: rs2146913390
Type: Indel
Location: chrX:13736603 (GRCh38)
Structure: AlphaFold pLDDT 68.41
Residue 80: the lish domain

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 c.517+13_517+14delinsGC Benign/Likely benign ★★ same condition
OFD1 p.Glu880_Lys881delinsLysIle Uncertain significance ★ same condition
OFD1 p.Glu984Gly Uncertain significance ★ same condition
OFD1 c.1411+1G>A Pathogenic ★★ same condition
OFD1 c.2600-1G>C Pathogenic/Likely pathogenic ★★ same condition
OFD1 p.Arg205fs Pathogenic/Likely pathogenic ★★ same condition
OFD1 p.Arg367Ter Pathogenic ★★ same condition
OFD1 p.Arg373fs 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-asp80fs (accessed [today's date]).

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