LSM7 — 11 ClinVar variants
All ClinVar germline LSM7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 9 Uncertain significance
Full LSM7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 3
The independent predictors disagree with each other — read with care.
All LSM7 variants
Pathogenic 1
- p.Asp41Asn No assertion criteria LSM7-related leukodystrophy and cerebellar atrophy
Likely pathogenic 1
- p.Arg69Pro Single submitter Joubert syndrome 36
Uncertain significance 9
- p.Ala103Thr Single submitter ⚠
- p.Arg31Cys Single submitter ⚠
- p.Arg56Gln Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Ile84Asn Single submitter ⚠
- p.Leu48Val Single submitter
- p.Leu64Phe Single submitter ⚠
- p.Pro58Ser Single submitter ⚠
- p.Ser34Thr Single submitter ⚠