Is OAT p.Tyr323= (c.969C>T) pathogenic?

OAT p.Tyr323= (c.969C>T) is classified Conflicting classifications of pathogenicity in OAT (ClinVar, Conflicting submitters, 6 submitters; last evaluated 2026-01-20). Rare (popmax 0.365%, afr); Associated with ornithine aminotransferase deficiency.

What condition is associated with OAT p.Tyr323= (c.969C>T)?

OAT p.Tyr323= (c.969C>T) is associated with ornithine aminotransferase deficiency (ClinVar).

How common is OAT p.Tyr323= (c.969C>T) in the general population?

OAT p.Tyr323= (c.969C>T) is rare (popmax 0.365%, afr) (gnomAD).

How is Gyrate atrophy of choroid and retina inherited?

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

OAT p.Tyr323=

c.969C>T · rs138895801 · VCV198705

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 6 submitters

gnomAD v4.1

Rare

rare (popmax 0.365%, afr)

Conditions

ornithine aminotransferase deficiency

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 -20	GERP -4.1
Overall
CADD	0.06	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.365% African / African-American · 274/75,022 alleles

Filtering AF 0.33% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.316%

Overall 0.0226% 365/1,613,208 alleles · rare exomes 207/1,460,956 · genomes 158/152,252 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.365%	274
Middle Eastern	0.0495%	2,019
Remaining individualsnot grpmax-eligible	0.0368%	2,716
Admixed American	0.0217%	4,615
European (non-Finnish)	0.00407%	24,579
South Asian	0.00329%	30,357
Finnishnot grpmax-eligible	0.00158%	63,384

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: OAT
Protein: p.Tyr323=
Coding: c.969C>T
MANE Select: NM_000274
dbSNP: rs138895801
Type: single nucleotide variant
Location: chr10:124401771 (GRCh38)
Gene constraint: LOEUF 0.968 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 94.29 · 35 PDB
Residue 323: a turn

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

Disease context

ornithine aminotransferase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Gyrate atrophy of choroid and retina (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood
Prevalence: 1-9 / 100 000 (Finland)

Similar variants

OAT p.Tyr323Ter Likely pathogenic ★ same residue
OAT p.Tyr323His Uncertain significance ⚠ same residue
OAT p.Tyr323fs Pathogenic/Likely pathogenic ★★ same residue
OAT c.1014+1G>A Likely pathogenic ★★ same condition
OAT c.199+2T>A Likely pathogenic ★★ same condition
OAT c.425-2A>G Pathogenic ★★ same condition
OAT c.520+1G>A Likely pathogenic ★★ same condition
OAT c.648+1G>A 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/oat-p-tyr323 (accessed [today's date]).

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