RNASET2
Chr 6ARribonuclease T2
Also known as: RNASE6PL, bA514O12.3
This ribonuclease cleaves single-stranded RNA molecules and plays essential roles in innate immune response by degrading microbial RNAs for TLR recognition and in mitochondrial RNA processing. Mutations cause leukoencephalopathy, cystic, without megalencephaly, which is inherited in an autosomal recessive pattern. The gene shows low constraint to loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 0 | 26 | 0 | 29 |
Likely Pathogenic | 3 | 0 | 3 | 0 | 6 |
VUS | 1 | 52 | 17 | 0 | 70 |
Likely Benign | 0 | 3 | 24 | 29 | 56 |
Benign | 0 | 2 | 6 | 2 | 10 |
Conflicting | — | 5 | |||
| Total | 7 | 57 | 76 | 31 | 176 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RNASET2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools