IMPA1 — 52 ClinVar variants
All ClinVar germline IMPA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 3 Benign · 9 Likely benign · 38 Uncertain significance
Full IMPA1 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 23
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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IMPA1 p.Thr205Ala
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 59
- IMPA1 p.Ala263Thr Uncertain significance Single submitter
- IMPA1 p.Asn32Ser Uncertain significance Single submitter
- IMPA1 p.Gly136Glu Uncertain significance Single submitter
- IMPA1 p.Gly20Glu Uncertain significance Single submitter
-
IMPA1 p.Gly240Asp
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 59
- IMPA1 p.Ile154Val Uncertain significance Single submitter
- IMPA1 p.Ile185Val Uncertain significance Single submitter
- IMPA1 p.Ile262Met Uncertain significance Single submitter
- IMPA1 p.Ile262Val Uncertain significance Single submitter
- IMPA1 p.Ile58Val Uncertain significance Single submitter
- IMPA1 p.Leu258Val Uncertain significance Single submitter
- IMPA1 p.Lys129Arg Uncertain significance Single submitter
- IMPA1 p.Lys28Glu Uncertain significance Single submitter
- IMPA1 p.Met179Thr Uncertain significance Single submitter
- IMPA1 p.Met34Ile Uncertain significance Single submitter
- IMPA1 p.Met34Thr Uncertain significance Single submitter
- IMPA1 p.Pro270Ser Uncertain significance Single submitter
- IMPA1 p.Pro63Leu Uncertain significance Single submitter
- IMPA1 p.Ser37Asn Uncertain significance Single submitter
- IMPA1 p.Thr229Ser Uncertain significance Single submitter
- IMPA1 p.Val126Ala Uncertain significance Single submitter
- IMPA1 p.Val22Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All IMPA1 variants
Pathogenic 1
- p.Ser165fs No assertion criteria intellectual disability, autosomal recessive 59
Likely pathogenic 1
- p.Arg273Ter Single submitter intellectual disability, autosomal recessive 59
Benign 3
- c.-25+424A>G Multiple submitters
- c.303-9T>A Single submitter
- p.Ile109Val Single submitter
Likely benign 9
- p.Pro39Ser Multiple submitters
- p.Thr82= Multiple submitters
- p.Ala196= Single submitter
- p.Asp274= Single submitter
- p.Gly206= Single submitter
- p.Gly233= Single submitter
- p.Thr168= Single submitter
- p.Thr168Ile Single submitter
- p.Val250Ile Single submitter
Uncertain significance 38
- p.Thr205Ala Multiple submitters intellectual disability, autosomal recessive 59 ⚠
- c.-25+345G>C Single submitter
- c.-25+349C>A Single submitter
- c.-25+349C>T Single submitter
- c.-25+355C>T Single submitter
- c.-25+389T>C Single submitter
- c.-25+451G>A Single submitter
- c.-25+478G>C Single submitter
- p.Ala263Thr Single submitter ⚠
- p.Arg248Gln Single submitter ⚠
- p.Asn32Ser Single submitter ⚠
- p.Gln48His Single submitter
- p.Glu127Gln Single submitter intellectual disability, autosomal recessive 59
- p.Gly136Glu Single submitter ⚠
- p.Gly207Arg Single submitter
- p.Gly20Glu Single submitter ⚠
- p.Gly240Asp Single submitter intellectual disability, autosomal recessive 59 ⚠
- p.Gly241Arg Single submitter ⚠
- p.Ile154Val Single submitter ⚠
- p.Ile185Val Single submitter ⚠
- p.Ile262Met Single submitter ⚠
- p.Ile262Val Single submitter ⚠
- p.Ile58Val Single submitter ⚠
- p.Leu258Val Single submitter ⚠
- p.Lys129Arg Single submitter ⚠
- p.Lys28Glu Single submitter ⚠
- p.Met179Thr Single submitter ⚠
- p.Met34Ile Single submitter ⚠
- p.Met34Thr Single submitter ⚠
- p.Pro270Ser Single submitter ⚠
- p.Pro63Leu Single submitter ⚠
- p.Ser166Phe Single submitter ⚠
- p.Ser192Asn Single submitter ⚠
- p.Ser37Asn Single submitter ⚠
- p.Thr229Ser Single submitter ⚠
- p.Thr46Met Single submitter ⚠
- p.Val126Ala Single submitter ⚠
- p.Val22Ile Single submitter ⚠