Is FLG p.Arg293Ser (c.879G>T) pathogenic?

FLG p.Arg293Ser (c.879G>T) is classified Uncertain significance in FLG (ClinVar, Single submitter, 1 submitter; last evaluated 2025-06-07). AlphaMissense: ambiguous (0.3438); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with FLG p.Arg293Ser (c.879G>T)?

FLG p.Arg293Ser (c.879G>T) is associated with Inborn genetic diseases (ClinVar).

How common is FLG p.Arg293Ser (c.879G>T) in the general population?

FLG p.Arg293Ser (c.879G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about FLG p.Arg293Ser (c.879G>T)?

AlphaMissense predicts ambiguous (score 0.3438) — an in-silico prediction, not a clinical call.

FLG p.Arg293Ser

c.879G>T · VCV4025478

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3438 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Inborn genetic diseases

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
AlphaMissense	0.3438	ambiguous
REVEL	0.035	moderately benign-leaning
SaProt	—	not scored · why
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -6.1	GERP -2.4
Regional constraint	o/e 1.77	unconstrained · MANE · 8,404 bp · p 0 · regional, not allelic
Overall
CADD	0.323	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL is an independent agreement signal.

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: FLG
Protein: p.Arg293Ser
Coding: c.879G>T
MANE Select: NM_002016
Type: single nucleotide variant
Location: chr1:152314007 (GRCh38)

Full FLG 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

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/flg-p-arg293ser (accessed [today's date]).

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