GSC — 120 ClinVar variants
All ClinVar germline GSC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 7 Benign · 3 Benign/Likely benign · 46 Likely benign · 60 Uncertain significance
Full GSC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GSC p.Ala26Val Uncertain significance Multiple submitters
- GSC p.Ala30Val Uncertain significance Multiple submitters
- GSC p.Tyr54Ser Uncertain significance Multiple submitters
- GSC p.Ala213Ser Uncertain significance Single submitter
- GSC p.Ala229Ser Uncertain significance Single submitter
- GSC p.Ala30Thr Uncertain significance Single submitter
- GSC p.Ala46Ser Uncertain significance Single submitter
- GSC p.Ala56Ser Uncertain significance Single submitter
- GSC p.Ala63Gly Uncertain significance Single submitter
- GSC p.Ala63Val Uncertain significance Single submitter
- GSC p.Ala72Gly Uncertain significance Single submitter
- GSC p.Arg146His Uncertain significance Single submitter
- GSC p.Arg161Gln Uncertain significance Single submitter
- GSC p.Arg212Gly Uncertain significance Single submitter
- GSC p.Gln109Glu Uncertain significance Single submitter
- GSC p.Glu248Asp Uncertain significance Single submitter
- GSC p.Gly122Ser Uncertain significance Single submitter
- GSC p.Gly49Asp Uncertain significance Single submitter
- GSC p.Gly49Ser Uncertain significance Single submitter
- GSC p.His89Gln Uncertain significance Single submitter
- GSC p.Leu23Phe Uncertain significance Single submitter
- GSC p.Leu38Met Uncertain significance Single submitter
- GSC p.Lys234Arg Uncertain significance Single submitter
- GSC p.Lys234Glu Uncertain significance Single submitter
- GSC p.Met139Val Uncertain significance Single submitter
- GSC p.Phe57Cys Uncertain significance Single submitter
- GSC p.Pro117Thr Uncertain significance Single submitter
- GSC p.Pro16Ser Uncertain significance Single submitter
- GSC p.Pro61His Uncertain significance Single submitter
- GSC p.Pro64His Uncertain significance Single submitter
- GSC p.Ser4Asn Uncertain significance Single submitter
- GSC p.Ser51Phe Uncertain significance Single submitter
- GSC p.Tyr58Ser Uncertain significance Single submitter
- GSC p.Val131Leu Uncertain significance Single submitter
- GSC p.Val197Ala Uncertain significance Single submitter
- GSC p.Val25Met Uncertain significance Single submitter
- GSC p.Val34Ile Uncertain significance Single submitter
- GSC p.Val62Gly Uncertain significance Single submitter
- GSC p.Val95Met Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- GSC p.Lys183Gln Uncertain significance Multiple submitters
- GSC p.Arg158Trp Uncertain significance Single submitter
- GSC p.Arg195Leu Uncertain significance Single submitter
- GSC p.Arg200Ser Uncertain significance Single submitter
- GSC p.Asn153Asp Uncertain significance Single submitter
- GSC p.Asp9His Uncertain significance Single submitter
- GSC p.Cys111Tyr Uncertain significance Single submitter
- GSC p.Gln154His Uncertain significance Single submitter
- GSC p.Gln180Arg Uncertain significance Single submitter
- GSC p.Glu121Lys Uncertain significance Single submitter
- GSC p.Glu148Lys Uncertain significance Single submitter
- GSC p.Glu191Lys Uncertain significance Single submitter
- GSC p.Glu202Asp Uncertain significance Single submitter
- GSC p.Gly101Arg Uncertain significance Single submitter
- GSC p.Gly75Arg Uncertain significance Single submitter
- GSC p.Gly79Asp Uncertain significance Single submitter
-
GSC p.Gly86Arg
Uncertain significance
Single submitter
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
- GSC p.Thr189Met Uncertain significance Single submitter
All GSC variants
Pathogenic 3
- c.355+1G>C No assertion criteria short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
- p.Gln134Ter No assertion criteria short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
- p.Gly66fs No assertion criteria short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Likely pathogenic 1
- c.616-2A>G Single submitter GSC-related disorders
Benign 7
- c.356-186C>T Multiple submitters
- p.Ala72Thr Multiple submitters
- p.Gly49dup Multiple submitters
- p.Pro36= Multiple submitters short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
- p.Tyr184= Multiple submitters
- c.355+213TTTTG[6] Single submitter
- c.616-123G>T Single submitter
Benign/Likely benign 3
Likely benign 46
- c.355+11G>C Single submitter
- c.355+15G>T Single submitter
- c.615+13G>T Single submitter
- c.615+7G>A Single submitter
- c.615+7G>T Single submitter
- c.615+8C>T Single submitter
- c.615+9C>T Single submitter
- c.616-7G>A Single submitter
- p.Ala29= Single submitter
- p.Ala30= Single submitter
- p.Ala63= Single submitter
- p.Arg161= Single submitter
- p.Arg164= Single submitter
- p.Arg217= Single submitter
- p.Arg60= Single submitter
- p.Asn153= Single submitter
- p.Asp9= Single submitter
- p.Cys111= Single submitter
- p.Cys113= Single submitter
- p.Gln134= Single submitter
- p.Gln154= Single submitter
- p.Gln91= Single submitter
- p.Glu248= Single submitter
- p.Gly55= Single submitter
- p.His163= Single submitter
- p.His27= Single submitter
- p.Leu149= Single submitter
- p.Leu175= Single submitter
- p.Leu78= Single submitter
- p.Phe57= Single submitter
- p.Phe84= Single submitter
- p.Pro105= Single submitter
- p.Pro185= Single submitter
- p.Pro2= Single submitter
- p.Pro61= Single submitter
- p.Ser129= Single submitter
- p.Ser223= Single submitter
- p.Ser238del Single submitter
- p.Ser255= Single submitter
- p.Ser42= Single submitter
- p.Tyr54= Single submitter
- p.Tyr85= Single submitter
- p.Val103= Single submitter
- p.Val141= Single submitter
- p.Val25= Single submitter
- p.Ser76= No assertion criteria GSC-related disorder
Uncertain significance 60
- p.Ala26Val Multiple submitters ⚠
- p.Ala30Val Multiple submitters ⚠
- p.Lys183Gln Multiple submitters ⚠
- p.Tyr54Ser Multiple submitters ⚠
- p.Ala213Ser Single submitter ⚠
- p.Ala229Ser Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala46Ser Single submitter ⚠
- p.Ala56Ser Single submitter ⚠
- p.Ala63Gly Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Ala72Gly Single submitter ⚠
- p.Arg146His Single submitter ⚠
- p.Arg158Trp Single submitter ⚠
- p.Arg161Gln Single submitter ⚠
- p.Arg195Leu Single submitter ⚠
- p.Arg200Ser Single submitter ⚠
- p.Arg212Gly Single submitter ⚠
- p.Asn153Asp Single submitter ⚠
- p.Asn82del Single submitter
- p.Asp9His Single submitter ⚠
- p.Cys111Tyr Single submitter ⚠
- p.Gln109Glu Single submitter ⚠
- p.Gln154His Single submitter ⚠
- p.Gln180Arg Single submitter ⚠
- p.Gln192Pro Single submitter
- p.Glu121Lys Single submitter ⚠
- p.Glu148Lys Single submitter ⚠
- p.Glu191Lys Single submitter ⚠
- p.Glu202Asp Single submitter ⚠
- p.Glu248Asp Single submitter ⚠
- p.Gly101Arg Single submitter ⚠
- p.Gly122Ser Single submitter ⚠
- p.Gly188= Single submitter
- p.Gly49Asp Single submitter ⚠
- p.Gly49Ser Single submitter ⚠
- p.Gly75Arg Single submitter ⚠
- p.Gly79Asp Single submitter ⚠
- p.Gly86Arg Single submitter short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ⚠
- p.His89Gln Single submitter ⚠
- p.Leu23Phe Single submitter ⚠
- p.Leu38Met Single submitter ⚠
- p.Lys234Arg Single submitter ⚠
- p.Lys234Glu Single submitter ⚠
- p.Met139Val Single submitter ⚠
- p.Phe57Cys Single submitter ⚠
- p.Pro117Thr Single submitter ⚠
- p.Pro16Ser Single submitter ⚠
- p.Pro61His Single submitter ⚠
- p.Pro64His Single submitter ⚠
- p.Ser4Asn Single submitter ⚠
- p.Ser51Phe Single submitter ⚠
- p.Thr189Met Single submitter ⚠
- p.Tyr58Ser Single submitter ⚠
- p.Val131Leu Single submitter ⚠
- p.Val197Ala Single submitter ⚠
- p.Val25Met Single submitter ⚠
- p.Val34Ile Single submitter ⚠
- p.Val62Gly Single submitter ⚠
- p.Val95Met Single submitter ⚠