DRG1 — 27 ClinVar variants
All ClinVar germline DRG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
5 Likely pathogenic · 22 Uncertain significance
Full DRG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DRG1 p.Arg17Gly Uncertain significance Single submitter
- DRG1 p.Arg222Ser Uncertain significance Single submitter
- DRG1 p.Arg315Gly Uncertain significance Single submitter
- DRG1 p.Arg66Gln Uncertain significance Single submitter
- DRG1 p.Gly124Arg Uncertain significance Single submitter
- DRG1 p.Gly49Ala Uncertain significance Single submitter
- DRG1 p.Ile43Val Uncertain significance Single submitter
- DRG1 p.Lys334Arg Uncertain significance Single submitter
- DRG1 p.Lys334Glu Uncertain significance Single submitter
- DRG1 p.Pro196Ser Uncertain significance Single submitter
- DRG1 p.Pro308Ser Uncertain significance Single submitter
- DRG1 p.Ser223Asn Uncertain significance Single submitter
- DRG1 p.Val148Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- DRG1 p.Arg275Cys Uncertain significance Single submitter
- DRG1 p.Asp229Asn Uncertain significance Single submitter
- DRG1 p.Gly47Asp Uncertain significance Single submitter
- DRG1 p.Leu200Met Uncertain significance Single submitter
- DRG1 p.Leu337Val Uncertain significance Single submitter
- DRG1 p.Val292Leu Uncertain significance Single submitter
All DRG1 variants
Likely pathogenic 5
- p.Arg140Ter Single submitter Tan-Almurshedi syndrome
- p.Asn248Phe Single submitter Tan-Almurshedi syndrome
- p.Gly54Ter Single submitter Tan-Almurshedi syndrome
- p.Lys263Ter Single submitter Tan-Almurshedi syndrome
- p.Arg40Ter No assertion criteria Flexion contracture
Uncertain significance 22
- c.1004+4_1004+7del Single submitter
- c.43-1G>T Single submitter neurodevelopmental disorder
- p.Arg17Gly Single submitter ⚠
- p.Arg222Ser Single submitter ⚠
- p.Arg275Cys Single submitter ⚠
- p.Arg315Gly Single submitter ⚠
- p.Arg66Gln Single submitter ⚠
- p.Asp229Asn Single submitter ⚠
- p.Gly124Arg Single submitter ⚠
- p.Gly47Asp Single submitter ⚠
- p.Gly49Ala Single submitter ⚠
- p.Ile43Val Single submitter ⚠
- p.Leu200Met Single submitter ⚠
- p.Leu337Val Single submitter ⚠
- p.Lys334Arg Single submitter ⚠
- p.Lys334Glu Single submitter ⚠
- p.Pro196Ser Single submitter ⚠
- p.Pro308Ser Single submitter ⚠
- p.Ser223Asn Single submitter ⚠
- p.Thr194Pro Single submitter
- p.Val148Ile Single submitter ⚠
- p.Val292Leu Single submitter ⚠