Is RBFOX2 p.Pro307Ser (c.919C>T) pathogenic?

RBFOX2 p.Pro307Ser (c.919C>T) is classified Uncertain significance in RBFOX2 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-06-11). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with RBFOX2 p.Pro307Ser (c.919C>T)?

RBFOX2 p.Pro307Ser (c.919C>T) is associated with Inborn genetic diseases (ClinVar).

How common is RBFOX2 p.Pro307Ser (c.919C>T) in the general population?

RBFOX2 p.Pro307Ser (c.919C>T) is absent from gnomAD v4.1 (gnomAD).

RBFOX2 p.Pro307Ser

c.919C>T · rs1057518386 · VCV373382

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

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	0.178	moderately benign-leaning
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 12	GERP 2.4, phastCons 1
Overall
CADD	25.6	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: RBFOX2
Protein: p.Pro307Ser
Coding: c.919C>T
MANE Select: NM_001349999
dbSNP: rs1057518386
Type: single nucleotide variant
Location: chr22:35761247 (GRCh38)
Gene constraint: LOEUF 0.336 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 55.86 · 1 PDB

Full RBFOX2 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

RBFOX2 p.Asp417Asn Uncertain significance ★★ same condition
RBFOX2 p.Glu229Gln Uncertain significance ★★ same condition
RBFOX2 p.Gly133Arg Uncertain significance ★★ same condition
RBFOX2 p.Gly409Ser Uncertain significance ★★ same condition
RBFOX2 p.Met91Val Uncertain significance ★★ same condition
RBFOX2 p.Pro104Leu Uncertain significance ★★ same condition
RBFOX2 p.Ala401= Likely benign ★★ same condition
RBFOX2 p.Tyr406Ter 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/rbfox2-p-pro307ser (accessed [today's date]).

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