ATXN7L3 — 39 ClinVar variants
All ClinVar germline ATXN7L3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Likely pathogenic · 1 Benign · 4 Likely benign · 33 Uncertain significance
Full ATXN7L3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATXN7L3 p.Arg271Gln Uncertain significance Multiple submitters
- ATXN7L3 p.Ala152Val Uncertain significance Single submitter
- ATXN7L3 p.Ala18Gly Uncertain significance Single submitter
- ATXN7L3 p.Asn117Ser Uncertain significance Single submitter
- ATXN7L3 p.Asn122Ser Uncertain significance Single submitter
- ATXN7L3 p.Asn327Lys Uncertain significance Single submitter
- ATXN7L3 p.Asn347Ser Uncertain significance Single submitter
- ATXN7L3 p.Gly243Arg Uncertain significance Single submitter
- ATXN7L3 p.His101Tyr Uncertain significance Single submitter
- ATXN7L3 p.His314Tyr Uncertain significance Single submitter
- ATXN7L3 p.Ile19Met Uncertain significance Single submitter
- ATXN7L3 p.Ile71Thr Uncertain significance Single submitter
- ATXN7L3 p.Leu106Pro Uncertain significance Single submitter
- ATXN7L3 p.Leu280Phe Uncertain significance Single submitter
- ATXN7L3 p.Phe183Tyr Uncertain significance Single submitter
- ATXN7L3 p.Phe48Tyr Uncertain significance Single submitter
- ATXN7L3 p.Pro198Leu Uncertain significance Single submitter
- ATXN7L3 p.Pro338Leu Uncertain significance Single submitter
- ATXN7L3 p.Ser316Asn Uncertain significance Single submitter
- ATXN7L3 p.Thr189Ala Uncertain significance Single submitter
- ATXN7L3 p.Thr195Asn Uncertain significance Single submitter
- ATXN7L3 p.Thr339Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All ATXN7L3 variants
Likely pathogenic 1
- p.Pro100Leu Single submitter Harel-Tora neurodevelopmental syndrome
Benign 1
- c.738-3C>T Multiple submitters
Likely benign 4
- c.895+4C>T Single submitter
- p.Arg119= Single submitter
- p.Gly323Ser Single submitter
- p.Ile115= Single submitter
Uncertain significance 33
- p.Arg114Ter Multiple submitters Harel-Tora neurodevelopmental syndrome
- p.Arg271Gln Multiple submitters ⚠
- c.184+5G>C Single submitter
- c.357-2A>C Single submitter
- c.738-1G>T Single submitter Harel-Tora neurodevelopmental syndrome
- c.738-2A>G Single submitter
- p.Ala152Val Single submitter ⚠
- p.Ala18Gly Single submitter ⚠
- p.Asn111fs Single submitter
- p.Asn117Ser Single submitter ⚠
- p.Asn122Ser Single submitter ⚠
- p.Asn327Lys Single submitter ⚠
- p.Asn347Ser Single submitter ⚠
- p.Cys36Phe Single submitter Harel-Tora neurodevelopmental syndrome ⚠
- p.Glu304Lys Single submitter ⚠
- p.Gly243Arg Single submitter ⚠
- p.His101Tyr Single submitter ⚠
- p.His314Tyr Single submitter ⚠
- p.Ile19Met Single submitter ⚠
- p.Ile71Thr Single submitter ⚠
- p.Leu106Pro Single submitter ⚠
- p.Leu280Phe Single submitter ⚠
- p.Lys15Asn Single submitter ⚠
- p.Phe183Tyr Single submitter ⚠
- p.Phe48Tyr Single submitter ⚠
- p.Pro198Leu Single submitter ⚠
- p.Pro338Leu Single submitter ⚠
- p.Ser112fs Single submitter
- p.Ser316Asn Single submitter ⚠
- p.Ser92Arg Single submitter ⚠
- p.Thr189Ala Single submitter ⚠
- p.Thr195Asn Single submitter ⚠
- p.Thr339Met Single submitter ⚠