Is FTL p.Glu14= (c.42G>A) pathogenic?

FTL p.Glu14= (c.42G>A) is classified Likely benign in FTL (ClinVar, Single submitter, 1 submitter; last evaluated 2021-04-27). Absent from gnomAD v4.1; Associated with neuroferritinopathy.

What condition is associated with FTL p.Glu14= (c.42G>A)?

FTL p.Glu14= (c.42G>A) is associated with neuroferritinopathy, hereditary hyperferritinemia with congenital cataracts (ClinVar).

How common is FTL p.Glu14= (c.42G>A) in the general population?

FTL p.Glu14= (c.42G>A) is absent from gnomAD v4.1 (gnomAD).

How is Neuroferritinopathy inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

FTL p.Glu14=

c.42G>A · rs1600121247 · VCV1554561

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

neuroferritinopathy

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 5.2	phastCons 1
Overall
CADD	12.76	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: FTL
Protein: p.Glu14=
Coding: c.42G>A
MANE Select: NM_000146
dbSNP: rs1600121247
Type: single nucleotide variant
Location: chr19:48965549 (GRCh38)
Gene constraint: LOEUF 1.552 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 96.69 · 17 PDB
Residue 14: an α-helix; the ferritin-like diiron domain

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

Disease context

neuroferritinopathy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: hereditary hyperferritinemia with congenital cataracts

For Neuroferritinopathy (Orphanet):

Inheritance: Autosomal dominant
Onset: Adult

Similar variants

FTL c.-149G>C Pathogenic/Likely pathogenic ★★ same condition
FTL c.-150C>A Pathogenic/Likely pathogenic ★★ same condition
FTL c.-157G>A Pathogenic/Likely pathogenic ★★ same condition
FTL c.-160A>G Pathogenic ★★ same condition
FTL c.-161C>T Pathogenic/Likely pathogenic ★★ same condition
FTL c.-164C>A Pathogenic/Likely pathogenic ★★ same condition
FTL c.-167C>T Pathogenic ★★ same condition
FTL c.-168G>A Pathogenic/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/ftl-p-glu14 (accessed [today's date]).

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