Is FTCD p.Ala365del (c.1077GGC[2]) pathogenic?

FTCD p.Ala365del (c.1077GGC[2]) is classified Uncertain significance in FTCD (ClinVar, Single submitter, 1 submitter; last evaluated 2020-10-14). Rare (popmax 0.128%, eas); Associated with formiminoglutamic aciduria.

What condition is associated with FTCD p.Ala365del (c.1077GGC[2])?

FTCD p.Ala365del (c.1077GGC[2]) is associated with formiminoglutamic aciduria (ClinVar).

How common is FTCD p.Ala365del (c.1077GGC[2]) in the general population?

FTCD p.Ala365del (c.1077GGC[2]) is rare (popmax 0.128%, eas) (gnomAD).

How is Formiminoglutamic aciduria inherited?

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

FTCD p.Ala365del

c.1077GGC[2] · rs780057373 · VCV1054702

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.128%, eas)

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 -3.3	GERP -2.9
Region caveats
Repeat context	tandem	(CGC)n simple repeat · ambiguous alignment · confidence, not pathogenicity

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.128% East Asian · 7/5,466 alleles

Filtering AF 0.0601% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0426%

Overall 0.00383% 31/808,690 alleles · rare exomes 31/804,012 · genomes 0/4,678 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.128%	781
Remaining individualsnot grpmax-eligible	0.0614%	1,628
Ashkenazi Jewishnot grpmax-eligible	0.013%	7,694
European (non-Finnish)	0.000847%	118,077

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: FTCD
Protein: p.Ala365del
Coding: c.1077GGC[2]
MANE Select: NM_206965
dbSNP: rs780057373
Type: Microsatellite
Location: chr21:46145831 (GRCh38)
Gene constraint: LOEUF 1.61 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 95.30
Residue 365: 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.Ala439del 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
FTCD p.Val344fs 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-ala365del (accessed [today's date]).

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