SUPV3L1

Chr 10

Suv3 like RNA helicase

Also known as: SUV3

NCBI Gene: 6832ENSG00000156502UniProt: Q8IYB8

Enables several functions, including double-stranded RNA binding activity; helicase activity; and protein homodimerization activity. Contributes to 3'-5'-RNA exonuclease activity. Involved in several processes, including mitochondrial RNA metabolic process; positive regulation of cell growth; and positive regulation of mitochondrial RNA catabolic process. Located in mitochondrial nucleoid and nucleus. Part of mitochondrial degradosome. Is active in mitochondrial matrix. [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.
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.46
LOEUF
DN
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?
0.46LOEUF
pLI 0.032
Z-score 4.07
OE 0.27 (0.17–0.46)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.15Z-score
OE missense 0.84 (0.77–0.92)
364 obs / 431.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.27 (0.17–0.46)
0≤0.351.4
Missense OE?0.84 (0.77–0.92)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 10 / 36.5Missense obs/exp: 364 / 431.0Syn Z: -0.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SUPV3L1 · 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