TSFM

Chr 12AR

Ts translation elongation factor, mitochondrial

Also known as: EFTS, EFTSMT

NCBI Gene: 10102 ENSG00000123297 UniProt: P43897 OMIM: 604723

The protein catalyzes guanine nucleotide exchange on elongation factor Tu during mitochondrial protein translation. Mutations cause combined oxidative phosphorylation deficiency 3, an autosomal recessive disorder resulting from impaired mitochondrial protein synthesis. The pathogenic mechanism involves defective mitochondrial translation elongation leading to reduced oxidative phosphorylation complex function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

OMIM ResearchGenerating clinical summary…

ARLOEUF 1.451 OMIM phenotype

Clinical Summary— TSFM

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Gene-Disease Validity (ClinGen)

mitochondrial disease · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

2 total gene-disease associations curated

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

97 unique Pathogenic / Likely Pathogenic· 206 VUS of 628 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.45LOEUF

pLI 0.000

Z-score 0.25

OE 0.93 (0.61–1.45)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.22Z-score

OE missense 1.05 (0.93–1.19)

177 obs / 169.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.93 (0.61–1.45)

0≤0.351.4

Missense OE?1.05 (0.93–1.19)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 14 / 15.0Missense obs/exp: 177 / 169.1Syn Z: -0.52

ClinVar Variant Classifications

628 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic35

Likely Pathogenic62

VUS206

Likely Benign276

Benign22

Conflicting22

Pathogenic

Likely Pathogenic

206

VUS

276

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	25	1	9	0	35
Likely Pathogenic	55	6	1	0	62
VUS	4	176	21	5	206
Likely Benign	2	10	96	168	276
Benign	0	4	17	1	22
Conflicting	—				22
Total	86	197	144	174	623

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

10 pathogenic / likely-pathogenic (of 14) ClinVar copy-number / structural variants overlap TSFM — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →