LETMD1

Chr 12

LETM1 domain containing 1

Also known as: 1110019O13Rik, HCCR, HCCR-1, HCCR-2, HCCR1, HCCR2, HCRR-2, SLC55A3

NCBI Gene: 25875ENSG00000050426UniProt: Q6P1Q0

This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.59
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.59LOEUF
pLI 0.049
Z-score 2.91
OE 0.30 (0.16–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.54Z-score
OE missense 0.90 (0.80–1.01)
193 obs / 215.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.30 (0.16–0.59)
0≤0.351.4
Missense OE?0.90 (0.80–1.01)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 6 / 20.1Missense obs/exp: 193 / 215.4Syn Z: -1.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LETMD1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients