GH1 — 33 ClinVar variants
All ClinVar germline GH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
10 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 5 Conflicting · 4 Benign/Likely benign · 3 Likely benign · 8 Uncertain significance
Full GH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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GH1 p.Arg209His
Pathogenic
Multiple submitters
GH1-related disorders
-
GH1 p.Pro85Leu
Likely pathogenic
Single submitter
isolated growth hormone deficiency type II
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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GH1 p.Val136Ile
Conflicting
Single submitter
Decreased response to growth hormone stimulation test
Predictors lean, ClinVar uncertain 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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GH1 p.Glu82Asp
Uncertain significance
Multiple submitters
Decreased response to growth hormone stimulation test
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GH1 p.Met151Thr
Uncertain significance
Single submitter
isolated growth hormone deficiency type II
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GH1 p.Ser111Pro
Uncertain significance
Single submitter
Inborn genetic diseases
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GH1 p.Val116Met
Uncertain significance
Single submitter
isolated growth hormone deficiency type IB
Predictors split 2
The independent predictors disagree with each other — read with care.
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GH1 p.Glu58Ala
Pathogenic
Single submitter
GH1-related disorders
-
GH1 p.Met196Ile
Uncertain significance
Single submitter
isolated growth hormone deficiency type IA
All GH1 variants
Pathogenic 10
- c.291+1G>A Multiple submitters GH1-related disorders
- c.291+5G>A Multiple submitters Idiopathic growth hormone deficiency
- p.Arg209His Multiple submitters GH1-related disorders ⚠
- p.Glu58Ala Single submitter GH1-related disorders ⚠
- p.Trp20Ter Single submitter isolated growth hormone deficiency type IA
- c.172-2A>T No assertion criteria isolated growth hormone deficiency type II
- c.291+28G>A No assertion criteria isolated growth hormone deficiency type II
- c.291+6T>C No assertion criteria isolated growth hormone deficiency type II
- p.Glu82fs No assertion criteria isolated growth hormone deficiency type IA
- p.Leu18fs No assertion criteria isolated growth hormone deficiency type IA
Pathogenic/Likely pathogenic 1
- p.Glu58Lys No assertion criteria GH1-related disorder
Likely pathogenic 2
- p.Pro85Leu Single submitter isolated growth hormone deficiency type II ⚠
- p.His44Pro No assertion criteria isolated growth hormone deficiency type II
Conflicting classifications of pathogenicity 5
- c.11-8C>T Single submitter isolated growth hormone deficiency type IA
- p.Ala50= Single submitter Decreased response to growth hormone stimulation test
- p.Arg6= Single submitter Inborn genetic diseases
- p.Asp156= Single submitter Decreased response to growth hormone stimulation test
- p.Val136Ile Single submitter Decreased response to growth hormone stimulation test ⚠
Benign/Likely benign 4
- c.456+19G>T Multiple submitters isolated growth hormone deficiency type IA
- c.-38A>C Multiple submitters Decreased response to growth hormone stimulation test
- c.-4T>G Multiple submitters Decreased response to growth hormone stimulation test
- p.Phe51Tyr Multiple submitters isolated growth hormone deficiency type II
Likely benign 3
Uncertain significance 8
- p.Glu82Asp Multiple submitters Decreased response to growth hormone stimulation test ⚠
- c.292-15G>A Single submitter Decreased response to growth hormone stimulation test
- p.Leu16_Leu18del Single submitter isolated growth hormone deficiency type IA
- p.Met151Thr Single submitter isolated growth hormone deficiency type II ⚠
- p.Met196Ile Single submitter isolated growth hormone deficiency type IA ⚠
- p.Ser111Pro Single submitter Inborn genetic diseases ⚠
- p.Ser214_Gly216del Single submitter isolated growth hormone deficiency type II
- p.Val116Met Single submitter isolated growth hormone deficiency type IB ⚠