Is OAT p.Asn378= (c.1134C>T) pathogenic?

OAT p.Asn378= (c.1134C>T) is classified Benign/Likely benign in OAT (ClinVar, Multiple submitters, 12 submitters; last evaluated 2026-02-04). Common (popmax 61.6%, eas) — too common for a highly-penetrant pathogenic allele; Associated with ornithine aminotransferase deficiency.

What condition is associated with OAT p.Asn378= (c.1134C>T)?

OAT p.Asn378= (c.1134C>T) is associated with ornithine aminotransferase deficiency (ClinVar).

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.Asn378=

Q: How common is OAT p.Asn378= (c.1134C>T) in the general population?

OAT p.Asn378= (c.1134C>T) is common (popmax 61.6%, eas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.1134C>T · rs11461 · VCV161

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 12 submitters

gnomAD v4.1

Common

common (popmax 61.6%, eas) — too common for a highly-penetrant pathogenic allele

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 -0.23	GERP -4, phastCons 0.002
Overall
CADD	0.772	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 61.6% East Asian · 27,505/44,646 alleles

Filtering AF 61% ClinGen BA1/BS1 input FAF95, joint · FAF99 60.7%

Overall 38.9% 618,593/1,591,336 alleles · common exomes 565,654/1,439,270 · genomes 52,939/152,066 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	61.6%	2
Admixed American	55.2%	2
South Asian	47.6%	2
Ashkenazi Jewishnot grpmax-eligible	43.8%	2
Middle Eastern	41.1%	2
Remaining individualsnot grpmax-eligible	39.7%	3
European (non-Finnish)	37.8%	3
Finnishnot grpmax-eligible	37.4%	3
Amishnot grpmax-eligible	37.2%	3
African / African-American	16.1%	6

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.Asn378=
Coding: c.1134C>T
MANE Select: NM_000274
dbSNP: rs11461
Type: single nucleotide variant
Location: chr10:124400865 (GRCh38)
Gene constraint: LOEUF 0.968 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 94.29 · 35 PDB
Residue 378: a β-strand

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 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
OAT c.772-1G>A Pathogenic/Likely pathogenic ★★ same condition
OAT c.900+1G>A Pathogenic/Likely pathogenic ★★ same condition
OAT p.Arg180Thr 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/oat-p-asn378 (accessed [today's date]).

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