Is NFIB p.Phe430Val (c.1288T>G) pathogenic?

NFIB p.Phe430Val (c.1288T>G) is classified Uncertain significance in NFIB (ClinVar, Single submitter, 1 submitter; last evaluated 2025-08-15). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with NFIB p.Phe430Val (c.1288T>G)?

NFIB p.Phe430Val (c.1288T>G) is associated with Inborn genetic diseases (ClinVar).

How common is NFIB p.Phe430Val (c.1288T>G) in the general population?

NFIB p.Phe430Val (c.1288T>G) is absent from gnomAD v4.1 (gnomAD).

NFIB p.Phe430Val

c.1288T>G · VCV4119405

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.216	benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 2.6, phastCons 1
Regional constraint	o/e 0.94	unconstrained · MANE · 219 kb · p 0.24 · regional, not allelic
Overall
CADD	27.5	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: NFIB
Protein: p.Phe430Val
Coding: c.1288T>G
MANE Select: NM_001190737
Type: single nucleotide variant
Location: chr9:14116304 (GRCh38)
Gene constraint: LOEUF 0.3 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 68.17 · 2 PDB

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

NFIB p.Asp309Val Uncertain significance ★★ ⚠ same condition
NFIB p.Glu305Gln Uncertain significance ★★ ⚠ same condition
NFIB p.Pro329Ser Uncertain significance ★★ ⚠ same condition
NFIB c.1061-1G>C Likely pathogenic ★ same condition
NFIB c.806+3A>C Uncertain significance ★ same condition
NFIB p.Arg81Cys Uncertain significance ★ ⚠ same condition
NFIB p.Asn219Asp Uncertain significance ★ ⚠ same condition
NFIB p.Asn219Ser 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/nfib-p-phe430val (accessed [today's date]).

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