MARVELD1

Chr 10

MARVEL domain containing 1

Also known as: GB14, MARVD1, MRVLDC1, bA548K23.8

NCBI Gene: 83742ENSG00000155254UniProt: Q9BSK0

Predicted to be a structural constituent of myelin sheath. Predicted to be involved in myelination. Predicted to be located in cytoskeleton; nucleus; and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jun 2026]

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.
9
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.02
LOEUF
GOF
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.02LOEUF
pLI 0.360
Z-score 1.56
OE 0.22 (0.08–1.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.21Z-score
OE missense 0.65 (0.52–0.80)
60 obs / 92.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.22 (0.08–1.02)
0≤0.351.4
Missense OE?0.65 (0.52–0.80)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 1 / 4.6Missense obs/exp: 60 / 92.9Syn Z: 0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MARVELD1 · 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
Stomach NeoplasmsNeoadjuvant Therapy

Family-Supervised Prehabilitation to Reduce Postoperative Complications After Neoadjuvant Chemotherapy in Gastric Cancer

NOT YET RECRUITING
NCT07183358Phase NAThe Affiliated Hospital of Qingdao UniversityStarted 2025-09-20
Family-supervised Multimodal PrehabilitationStandard Care
Ulcerative Colitis (UC)Crohn Disease (CD)

Wild Blueberries in Colitis

RECRUITING
NCT06698601Phase NAUniversität Duisburg-EssenStarted 2024-09-24
blueberry-rich dietControl diet
Crohn's Disease

Impact of Diet and Lifestyle Modification on the Intestinal Barrier Integrity in Crohn's Disease

RECRUITING
NCT06719778Phase NAUniversität Duisburg-EssenStarted 2024-08-01
Two-stage nutritional therapy concept
Functional Dyspepsia

Budesonide as a Treatment for Functional Dyspepsia

RECRUITING
NCT06841406Phase PHASE4Universitaire Ziekenhuizen KU LeuvenStarted 2024-05-01
budesonideMannitol
Atherosclerosis Cardiovascular DiseaseObesityMetabolic Syndrome

Deciphering the Effect of Moderate Wine Consumption on Healthy Aging Through Postprandial Extracellular Vesicles.

RECRUITING
NCT07361887Phase NAUniversity of SevilleStarted 2025-11-01
White WineRed WineWater
Type1diabetes

Crosstalk Between Mucosal-Associated Invariant T (MAIT) Cells and the Gut Microbiota and Mucosa in the Development of Type 1 Diabetes in Children

RECRUITING
NCT05054361Institut National de la Santé Et de la Recherche Médicale, FranceStarted 2022-01-01
MAIT cells analysisMAIT cytokines production analysisLactulose/Mannitol Test
Sucrase Isomaltase Deficiency

Genetic Carbohydrate Maldigestion As Model to Study Food Hypersensitivity Mechanism (WORK PACKAGE 2)

NOT YET RECRUITING
NCT06770907University of NottinghamStarted 2025-03
Blood, stool and saliva collectionQuestionnaire completionMagnetic Resonance Imaging (MRI) and Breath test
Malnutrition PregnancyMalnutrition in ChildrenMalnutrition (Calorie)

Early Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories

RECRUITING
NCT07195006University of ZimbabweStarted 2025-01-27
Malnutrition in pregnancy as exposurePoor WASH living conditions as exposure
Obese Patients (BMI ≥ 30 kg/m²)AnxietyDepressive Disorder

Therapeutic Potential of a Synbiotic to Improve Mental Health in Subjects With Obesity.

RECRUITING
NCT06901739Phase NACelia BañulsStarted 2025-04-15
SynbioticPlacebo

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