IGF1 — 193 ClinVar variants
All ClinVar germline IGF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
4 Pathogenic · 6 Likely pathogenic · 5 Conflicting · 22 Benign · 3 Benign/Likely benign · 37 Likely benign · 116 Uncertain significance
Full IGF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 20
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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IGF1 p.Ala115Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IGF1 p.Ala118Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IGF1 p.Arg122His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IGF1 p.Cys15Trp
Uncertain significance
Multiple submitters
growth delay due to insulin-like growth factor type 1 deficiency
- IGF1 p.Cys54Trp Uncertain significance Multiple submitters
-
IGF1 p.Leu7Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IGF1 p.Ala118Pro Uncertain significance Single submitter
-
IGF1 p.Ala36Val
Uncertain significance
Single submitter
growth delay due to insulin-like growth factor type 1 deficiency
- IGF1 p.Ala86Val Uncertain significance Single submitter
- IGF1 p.Arg98Gln Uncertain significance Single submitter
-
IGF1 p.Asp128Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- IGF1 p.Glu106Lys Uncertain significance Single submitter
- IGF1 p.Gly70Asp Uncertain significance Single submitter
-
IGF1 p.His126Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- IGF1 p.Leu7Pro Uncertain significance Single submitter
-
IGF1 p.Ser28Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- IGF1 p.Ser45Pro Uncertain significance Single submitter
- IGF1 p.Ser6Cys Uncertain significance Single submitter
- IGF1 p.Ser82Asn Uncertain significance Single submitter
-
IGF1 p.Lys134Arg
Uncertain significance
No assertion criteria
microcephaly
Predictors split 8
The independent predictors disagree with each other — read with care.
-
IGF1 p.Arg119His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IGF1 p.Arg104Gly
Uncertain significance
Single submitter
Monogenic short statue
- IGF1 p.Arg84Gln Uncertain significance Single submitter
-
IGF1 p.Arg98Trp
Uncertain significance
Single submitter
growth delay due to insulin-like growth factor type 1 deficiency
-
IGF1 p.Met107Arg
Uncertain significance
Single submitter
growth delay due to insulin-like growth factor type 1 deficiency
- IGF1 p.Tyr108His Uncertain significance Single submitter
- IGF1 p.Val22Glu Uncertain significance Single submitter
-
IGF1 p.Val92Met
Conflicting
Single submitter
growth delay due to insulin-like growth factor type 1 deficiency
All IGF1 variants
Pathogenic 4
- p.Arg69fs Single submitter
- p.Cys109Ter Single submitter Monogenic short statue
- p.Phe12fs Single submitter
- p.Thr77fs Single submitter Monogenic short statue
Likely pathogenic 6
- c.220+1G>T Single submitter
- c.220+2T>A Single submitter
- c.63+2T>A Single submitter
- p.Leu35fs Single submitter
- p.Cys95Ter No assertion criteria growth delay due to insulin-like growth factor type 1 deficiency
- p.Leu53fs No assertion criteria growth delay due to insulin-like growth factor type 1 deficiency
Conflicting classifications of pathogenicity 5
- p.Arg69= Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- p.Asp128= Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- p.Pro50= Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- p.Ser30= Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- p.Val92Met Single submitter growth delay due to insulin-like growth factor type 1 deficiency ⚠
Benign 22
- c.*1770C>T Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*2266T>G Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*2364A>G Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*261A>T Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*2652T>C Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*2716G>A Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*3226C>G Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*3388C>T Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*3552C>T Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*3971A>G Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*5505T>A Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*6093G>A Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*6384C>T Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*6433G>C Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*2499T>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*306A>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4009G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4536T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5202T>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5270T>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*6311T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*771T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
Benign/Likely benign 3
- c.*263T>A Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- p.Ala115Thr Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- p.Thr52= Multiple submitters
Likely benign 37
- c.402+1663C>A Multiple submitters
- c.*105T>C Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*259A>T Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*4410T>G Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- p.Cys95= Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- p.Leu37= Multiple submitters
- c.220+10C>T Single submitter
- c.221-18T>C Single submitter
- c.402+1534C>T Single submitter
- c.402+1615T>C Single submitter
- c.63+13T>A Single submitter
- c.63+19T>C Single submitter
- c.64-25_64-20del Single submitter
- c.*1753C>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2266T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*261_*262dup Single submitter
- c.*263del Single submitter
- c.*4008C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4107T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4411T>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4739C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*722G>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*784A>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- p.Ala36= Single submitter
- p.Ala86= Single submitter
- p.Asn140= Single submitter
- p.Cys54= Single submitter
- p.Ile91= Single submitter
- p.Leu105= Single submitter
- p.Phe64= Single submitter
- p.Ser45= Single submitter
- p.Ser99= Single submitter
- p.Ter154= Single submitter
- p.Thr127= Single submitter
- p.Thr47= Single submitter
- p.Tyr108= Single submitter
- p.Lys149Asn No assertion criteria intellectual disability
Uncertain significance 116
- c.*260A>T Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- c.*6622A>G Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency
- p.Ala115Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala118Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg119His Multiple submitters Inborn genetic diseases ⚠
- p.Arg122His Multiple submitters Inborn genetic diseases ⚠
- p.Cys15Trp Multiple submitters growth delay due to insulin-like growth factor type 1 deficiency ⚠
- p.Cys54Trp Multiple submitters ⚠
- p.Leu7Phe Multiple submitters Inborn genetic diseases ⚠
- c.63+5A>G Single submitter
- c.*1033A>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1054G>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1157G>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1204C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1319A>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1354A>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1386G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1398C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1489T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1643G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1718T>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1724C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1849G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*1940T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2006C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2047C>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2047C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2195G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2197A>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2212G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2241C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2362A>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2375del Single submitter
- c.*23G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*262AT[10] Single submitter
- c.*265T>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2820A>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2827C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2908T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*2968C>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*3190A>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*3360G>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*3362CA[17] Single submitter
- c.*3362CA[20] Single submitter
- c.*3615T>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*3716G>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*3800G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*3890G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*3915A>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*3923T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*3933G>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4007G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4368C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4404G>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4409T>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4413T>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*447G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*447G>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4488T>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4519T>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4525C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4540C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4669G>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4699C>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4758G>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4940C>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*4980T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5079T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5164C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5187A>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5289T>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5332G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5332G>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5449G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*550C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5533C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5538C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5670C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5844A>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5930A>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*5991C>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*6119G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*6181T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*6227G>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*6243A>T Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*6583A>G Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*6598T>C Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*662C>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*780G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- c.*954G>A Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- p.Ala118Pro Single submitter ⚠
- p.Ala141Ser Single submitter growth delay due to insulin-like growth factor type 1 deficiency
- p.Ala141Thr Single submitter
- p.Ala36Val Single submitter growth delay due to insulin-like growth factor type 1 deficiency ⚠
- p.Ala86Val Single submitter ⚠
- p.Arg104Gly Single submitter Monogenic short statue ⚠
- p.Arg84Gln Single submitter ⚠
- p.Arg98Gln Single submitter ⚠
- p.Arg98Trp Single submitter growth delay due to insulin-like growth factor type 1 deficiency ⚠
- p.Asp128Asn Single submitter Inborn genetic diseases ⚠
- p.Glu106Lys Single submitter ⚠
- p.Gly144fs Single submitter
- p.Gly70Asp Single submitter ⚠
- p.His126Asn Single submitter Inborn genetic diseases ⚠
- p.Leu7Pro Single submitter ⚠
- p.Lys134= Single submitter
- p.Met107Arg Single submitter growth delay due to insulin-like growth factor type 1 deficiency ⚠
- p.Ser28Pro Single submitter Inborn genetic diseases ⚠
- p.Ser45Pro Single submitter ⚠
- p.Ser6Cys Single submitter ⚠
- p.Ser82Asn Single submitter ⚠
- p.Thr127Ile Single submitter
- p.Tyr108fs Single submitter
- p.Tyr108His Single submitter ⚠
- p.Val22Glu Single submitter ⚠
- p.Lys134Arg No assertion criteria microcephaly ⚠