Is FECH p.Val17fs (c.50del) pathogenic?

FECH p.Val17fs (c.50del) is classified Likely pathogenic in FECH (ClinVar, Single submitter, 1 submitter; last evaluated 2019-12-10). Associated with FECH-related disorders.

What condition is associated with FECH p.Val17fs (c.50del)?

FECH p.Val17fs (c.50del) is associated with FECH-related disorders (ClinVar).

FECH p.Val17fs

c.50del · VCV4939158

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

FECH-related disorders

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 1 of 11
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.64	GERP -0.68

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: FECH
Protein: p.Val17fs
Coding: c.50del
MANE Select: NM_000140
Type: Deletion
Location: chr18:57586571 (GRCh38)
Gene constraint: LOEUF 0.859 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.37 · 25 PDB

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

Disease context

FECH-related disorders

Similar variants

FECH p.Asp316fs Pathogenic/Likely pathogenic ★★ same condition
FECH p.Lys397fs Likely pathogenic ★ same condition
FECH c.314+2T>G Pathogenic/Likely pathogenic ★★ same condition
FECH c.599-2A>G Pathogenic ★★ same condition
FECH p.Arg298Ter Pathogenic/Likely pathogenic ★★ same condition
FECH p.Arg96Ter Pathogenic/Likely pathogenic ★★ same condition
FECH p.Glu359= Pathogenic/Likely pathogenic ★★ same condition
FECH p.Trp301fs 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/fech-p-val17fs (accessed [today's date]).

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