Is FTCD p.Gly334= (c.1002C>G) pathogenic?

FTCD p.Gly334= (c.1002C>G) is classified Likely benign in FTCD (ClinVar, Single submitter, 1 submitter; last evaluated 2023-11-27). Very rare (popmax 0.00294%, afr); Associated with formiminoglutamic aciduria.

What condition is associated with FTCD p.Gly334= (c.1002C>G)?

FTCD p.Gly334= (c.1002C>G) is associated with formiminoglutamic aciduria (ClinVar).

How common is FTCD p.Gly334= (c.1002C>G) in the general population?

FTCD p.Gly334= (c.1002C>G) is very rare (popmax 0.00294%, afr) (gnomAD).

How is Formiminoglutamic aciduria inherited?

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

FTCD p.Gly334=

c.1002C>G · rs1452645058 · VCV2011065

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00294%, afr)

Conditions

formiminoglutamic aciduria

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 3.7	GERP 1.4, phastCons 1
Overall
CADD	5.713	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00294% African / African-American · 2/68,072 alleles

Filtering AF 0.000488% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000182%

Overall 0.0002% 3/1,501,510 alleles · very rare exomes 3/1,352,810 · genomes 0/148,700 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00294%	34,036
Remaining individualsnot grpmax-eligible	0.00171%	58,394

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.Gly334=
Coding: c.1002C>G
MANE Select: NM_206965
dbSNP: rs1452645058
Type: single nucleotide variant
Location: chr21:46145914 (GRCh38)
Gene constraint: LOEUF 1.61 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 95.30
Residue 334: the 'linker' 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

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FTCD p.Ala108Thr Uncertain significance ★★ ⚠ same condition
FTCD p.Ala159Val Uncertain significance ★★ ⚠ same condition
FTCD p.Ala368Val Uncertain significance ★★ ⚠ same condition
FTCD p.Ala418Thr Uncertain significance ★★ ⚠ same condition
FTCD p.Ala455Thr Uncertain significance ★★ ⚠ 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-gly334 (accessed [today's date]).

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