Is F7 p.Val355= (c.1065G>A) pathogenic?

F7 p.Val355= (c.1065G>A) is classified Likely benign in F7 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-08-21). Absent from gnomAD v4.1; Associated with F7-related disorder.

What condition is associated with F7 p.Val355= (c.1065G>A)?

F7 p.Val355= (c.1065G>A) is associated with F7-related disorder (ClinVar).

How common is F7 p.Val355= (c.1065G>A) in the general population?

F7 p.Val355= (c.1065G>A) is absent from gnomAD v4.1 (gnomAD).

F7 p.Val355=

c.1065G>A · VCV3346163

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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
Pangolin	Δ0.37	gain · loss 0.00 · not in the SpliceAI release · independent
Constraint at this position
Conservation	phyloP -0.53	GERP -2.8
Overall
CADD	0.536	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: F7
Protein: p.Val355=
Coding: c.1065G>A
MANE Select: NM_019616
Type: single nucleotide variant
Location: chr13:113118738 (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 355: a turn; 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-val355 (accessed [today's date]).

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