Is F7 p.Ile243= (c.729C>T) pathogenic?

F7 p.Ile243= (c.729C>T) is classified Likely benign in F7 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2020-01-24). Ultra-rare (popmax 0.0201%, amr); Associated with F7-related disorder.

What condition is associated with F7 p.Ile243= (c.729C>T)?

F7 p.Ile243= (c.729C>T) is associated with F7-related disorder (ClinVar).

How common is F7 p.Ile243= (c.729C>T) in the general population?

F7 p.Ile243= (c.729C>T) is ultra-rare (popmax 0.0201%, amr) (gnomAD).

F7 p.Ile243=

c.729C>T · rs568985630 · VCV3048047

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0201%, amr)

Conditions

F7-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -20	GERP -2.7
Overall
CADD	0.005	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0201% Admixed American · 12/59,680 alleles

Filtering AF 0.0116% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00903%

Overall 0.00187% 30/1,602,642 alleles · ultra-rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.0201%	4,973
East Asian	0.0134%	7,477
Finnishnot grpmax-eligible	0.00159%	63,086
South Asian	0.0011%	90,928
European (non-Finnish)	0.000854%	117,103

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: F7
Protein: p.Ile243=
Coding: c.729C>T
MANE Select: NM_019616
dbSNP: rs568985630
Type: single nucleotide variant
Location: chr13:113117586 (GRCh38)
Gene constraint: LOEUF 1.113 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 82.64 · 114 PDB
Residue 243: a β-strand; a disulfide bond; the peptidase s1 domain

Full F7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

F7-related disorder

Similar variants

F7 p.Ala332Val Pathogenic/Likely pathogenic ★★ same condition
F7 p.Thr397Met Pathogenic ★★ ⚠ same condition
F7 c.-32A>C Likely pathogenic ★ same condition
F7 p.Trp239Ter Likely pathogenic ★ same condition
F7 p.Asp280Asn Conflicting classifications of pathogenicity ★ ⚠ same condition
F7 p.Cys173Tyr Uncertain significance ★ ⚠ same condition
F7 p.Val206Leu Uncertain significance ★ same condition
F7 p.Arg342Gly 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/f7-p-ile243 (accessed [today's date]).

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