GC — 58 ClinVar variants
All ClinVar germline GC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
9 Benign · 7 Likely benign · 42 Uncertain significance
Full GC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GC p.Ala147Val Uncertain significance Single submitter
- GC p.Arg218Lys Uncertain significance Single submitter
- GC p.Asn99His Uncertain significance Single submitter
- GC p.Asp247Asn Uncertain significance Single submitter
- GC p.Asp82Val Uncertain significance Single submitter
- GC p.Cys375Tyr Uncertain significance Single submitter
- GC p.Cys462Gly Uncertain significance Single submitter
- GC p.Glu132Ala Uncertain significance Single submitter
- GC p.Glu271Gln Uncertain significance Single submitter
- GC p.Glu327Asp Uncertain significance Single submitter
- GC p.Glu366Gln Uncertain significance Single submitter
- GC p.Gly78Glu Uncertain significance Single submitter
- GC p.His281Arg Uncertain significance Single submitter
- GC p.Leu209Phe Uncertain significance Single submitter
- GC p.Leu233Pro Uncertain significance Single submitter
- GC p.Leu254Pro Uncertain significance Single submitter
- GC p.Leu369Val Uncertain significance Single submitter
- GC p.Leu372Val Uncertain significance Single submitter
- GC p.Leu8Val Uncertain significance Single submitter
- GC p.Lys420Ile Uncertain significance Single submitter
- GC p.Met185Val Uncertain significance Single submitter
- GC p.Phe133Tyr Uncertain significance Single submitter
- GC p.Pro435Ala Uncertain significance Single submitter
- GC p.Ser268Thr Uncertain significance Single submitter
- GC p.Ser450Tyr Uncertain significance Single submitter
- GC p.Thr291Ile Uncertain significance Single submitter
- GC p.Thr56Arg Uncertain significance Single submitter
- GC p.Val197Ala Uncertain significance Single submitter
- GC p.Val378Gly Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- GC p.Asn217His Uncertain significance Single submitter
- GC p.Gln301Pro Uncertain significance Single submitter
- GC p.Glu143Gly Uncertain significance Single submitter
- GC p.Glu72Lys Uncertain significance Single submitter
- GC p.Lys242Gln Uncertain significance Single submitter
- GC p.Phe448Leu Uncertain significance Single submitter
- GC p.Ser49Gly Uncertain significance Single submitter
- GC p.Thr340Ile Uncertain significance Single submitter
- GC p.Thr56Met Uncertain significance Single submitter
All GC variants
Benign 9
- p.Arg425= Multiple submitters
- p.Asn288Asp Multiple submitters
- p.Lys94= Multiple submitters
- p.Tyr136= Multiple submitters
- p.Asn166= Single submitter
- p.Asp432Glu Single submitter periodontitis
- p.His445Tyr Single submitter chronic obstructive pulmonary disease
- p.Thr436Lys Single submitter
- c.1035-67TAAA[6_10] No assertion criteria GC1/GC2 POLYMORPHISM
Likely benign 7
- c.701+7A>G Multiple submitters
- p.Lys229= Multiple submitters
- p.His34Asn Single submitter
- p.Lys440= Single submitter
- p.Ser351Gly Single submitter
- p.Val308Ile Single submitter
- p.Val4Ile Single submitter
Uncertain significance 42
- p.Ala147Val Single submitter ⚠
- p.Arg218Lys Single submitter ⚠
- p.Asn217His Single submitter ⚠
- p.Asn456Thr Single submitter
- p.Asn99His Single submitter ⚠
- p.Asp247Asn Single submitter ⚠
- p.Asp82Val Single submitter ⚠
- p.Cys375Tyr Single submitter ⚠
- p.Cys462Gly Single submitter ⚠
- p.Gln301Pro Single submitter ⚠
- p.Glu132Ala Single submitter ⚠
- p.Glu143Gly Single submitter ⚠
- p.Glu271Gln Single submitter ⚠
- p.Glu327Asp Single submitter ⚠
- p.Glu366Gln Single submitter ⚠
- p.Glu72Lys Single submitter ⚠
- p.Gly78Glu Single submitter ⚠
- p.His281Arg Single submitter ⚠
- p.Leu209Phe Single submitter ⚠
- p.Leu233Pro Single submitter ⚠
- p.Leu254Pro Single submitter ⚠
- p.Leu369Val Single submitter ⚠
- p.Leu372Val Single submitter ⚠
- p.Leu70Phe Single submitter
- p.Leu8Val Single submitter ⚠
- p.Lys242Gln Single submitter ⚠
- p.Lys420Ile Single submitter ⚠
- p.Met185Val Single submitter ⚠
- p.Phe133Tyr Single submitter ⚠
- p.Phe448Leu Single submitter ⚠
- p.Pro435Ala Single submitter ⚠
- p.Ser268Thr Single submitter ⚠
- p.Ser450Tyr Single submitter ⚠
- p.Ser49Gly Single submitter ⚠
- p.Thr291Ile Single submitter ⚠
- p.Thr340Ile Single submitter ⚠
- p.Thr56Arg Single submitter ⚠
- p.Thr56Met Single submitter ⚠
- p.Tyr410His Single submitter
- p.Val197Ala Single submitter ⚠
- p.Val378Gly Single submitter ⚠
- p.Pro459fs No assertion criteria chronic obstructive pulmonary disease