Is FTCD p.Ala439del (c.1311GGC[1]) pathogenic?

FTCD p.Ala439del (c.1311GGC[1]) is classified Uncertain significance in FTCD (ClinVar, Single submitter, 1 submitter; last evaluated 2022-06-28). No gnomAD frequency available for this variant; Associated with formiminoglutamic aciduria.

What condition is associated with FTCD p.Ala439del (c.1311GGC[1])?

FTCD p.Ala439del (c.1311GGC[1]) is associated with formiminoglutamic aciduria (ClinVar).

How common is FTCD p.Ala439del (c.1311GGC[1]) in the general population?

FTCD p.Ala439del (c.1311GGC[1]) is no gnomAD frequency available for this variant (gnomAD).

How is Formiminoglutamic aciduria inherited?

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

FTCD p.Ala439del

c.1311GGC[1] · rs2123482286 · VCV1376953

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

formiminoglutamic aciduria

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.1	GERP 0.41, phastCons 1

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: FTCD
Protein: p.Ala439del
Coding: c.1311GGC[1]
MANE Select: NM_206965
dbSNP: rs2123482286
Type: Microsatellite
Location: chr21:46138635 (GRCh38)
Gene constraint: LOEUF 1.61 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 95.30
Residue 439: the 'cyclodeaminase/cyclohydrolase' region

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

Disease context

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

For Formiminoglutamic aciduria (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood

Similar variants

FTCD p.Ala439= Likely benign ★★ same residue
FTCD p.Ala365del Uncertain significance ★ same condition
FTCD c.1098+18_1098+19insGGGCGCTGTTGGGGGGAGGGCGGGGAG Likely benign ★ same condition
FTCD p.Ala62fs Likely pathogenic ★★ same condition
FTCD p.Arg255Ter Pathogenic ★★ same condition
FTCD p.Arg71Ter Pathogenic/Likely pathogenic ★★ same condition
FTCD p.Leu536Ter Pathogenic/Likely pathogenic ★★ same condition
FTCD p.Pro331fs 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/ftcd-p-ala439del (accessed [today's date]).

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