Is TRIT1 p.Pro11= (c.33C>T) pathogenic?

TRIT1 p.Pro11= (c.33C>T) is classified Benign in TRIT1 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2026-02-03). Common (popmax 60.3%, eas) — too common for a highly-penetrant pathogenic allele; Associated with combined oxidative phosphorylation deficiency 35.

What condition is associated with TRIT1 p.Pro11= (c.33C>T)?

TRIT1 p.Pro11= (c.33C>T) is associated with combined oxidative phosphorylation deficiency 35 (ClinVar).

TRIT1 p.Pro11=

Q: How common is TRIT1 p.Pro11= (c.33C>T) in the general population?

TRIT1 p.Pro11= (c.33C>T) is common (popmax 60.3%, eas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.33C>T · rs3845570 · VCV1342274

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Common

common (popmax 60.3%, eas) — too common for a highly-penetrant pathogenic allele

Conditions

combined oxidative phosphorylation deficiency 35

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -0.29	GERP -4.9
Overall
CADD	7.566	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 60.3% East Asian · 26,820/44,512 alleles

Filtering AF 59.6% ClinGen BA1/BS1 input FAF95, joint · FAF99 59.4%

Overall 42.1% 675,533/1,603,634 alleles · common

Ancestry group	Frequency	1 in
East Asiangrpmax	60.3%	2
African / African-American	57.9%	2
Ashkenazi Jewishnot grpmax-eligible	47.4%	2
Admixed American	45.4%	2
South Asian	44.4%	2
Remaining individualsnot grpmax-eligible	43.1%	2
Finnishnot grpmax-eligible	40.6%	2
European (non-Finnish)	40%	2
Middle Eastern	35.1%	3
Amishnot grpmax-eligible	20.9%	5

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: TRIT1
Protein: p.Pro11=
Coding: c.33C>T
dbSNP: rs3845570
Type: single nucleotide variant
Location: chr1:39883459 (GRCh38)

Full TRIT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

combined oxidative phosphorylation deficiency 35 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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/trit1-p-pro11 (accessed [today's date]).

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