STEEP1 — 31 ClinVar variants
All ClinVar germline STEEP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 2 Benign · 4 Likely benign · 20 Uncertain significance
Full STEEP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 8
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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STEEP1 p.Arg53Leu
Uncertain significance
Single submitter
intellectual disability, X-linked 107
- STEEP1 p.Arg55Gln Uncertain significance Single submitter
-
STEEP1 p.Arg57Gly
Uncertain significance
Single submitter
intellectual disability, X-linked 107
-
STEEP1 p.Cys96Tyr
Uncertain significance
Single submitter
intellectual disability, X-linked 107
- STEEP1 p.Ile131Val Uncertain significance Single submitter
- STEEP1 p.Pro52Ser Uncertain significance Single submitter
-
STEEP1 p.Pro82Ala
Uncertain significance
Single submitter
intellectual disability, X-linked 107
- STEEP1 p.Val119Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- STEEP1 p.Arg147Pro Uncertain significance Single submitter
-
STEEP1 p.Arg15Leu
Uncertain significance
Single submitter
intellectual disability, X-linked 107
-
STEEP1 p.Arg198Gln
Uncertain significance
Single submitter
intellectual disability, X-linked 107
- STEEP1 p.Arg55Trp Likely benign Single submitter
- STEEP1 p.Cys11Ser Uncertain significance Single submitter
- STEEP1 p.Glu170Ala Uncertain significance Single submitter
- STEEP1 p.Ile162Thr Uncertain significance Single submitter
- STEEP1 p.Leu216Phe Uncertain significance Single submitter
-
STEEP1 p.Glu165Gly
Uncertain significance
No assertion criteria
intellectual disability, X-linked 107
All STEEP1 variants
Pathogenic 3
- p.Glu167_Glu168del Single submitter intellectual disability, X-linked 107
- p.Asp54Ter No assertion criteria intellectual disability, X-linked 107
- p.Gln200Ter No assertion criteria intellectual disability, X-linked 107
Likely pathogenic 2
Benign 2
Likely benign 4
- p.Ala210= Single submitter
- p.Arg55Trp Single submitter ⚠
- p.Leu79= Single submitter
- p.Val120= Single submitter
Uncertain significance 20
- c.243-4G>A Single submitter
- c.-50C>T Single submitter
- c.*595T>A Single submitter
- p.Arg147Pro Single submitter ⚠
- p.Arg15Leu Single submitter intellectual disability, X-linked 107 ⚠
- p.Arg198Gln Single submitter intellectual disability, X-linked 107 ⚠
- p.Arg53Leu Single submitter intellectual disability, X-linked 107 ⚠
- p.Arg55Gln Single submitter ⚠
- p.Arg57Gly Single submitter intellectual disability, X-linked 107 ⚠
- p.Cys11Ser Single submitter ⚠
- p.Cys96Tyr Single submitter intellectual disability, X-linked 107 ⚠
- p.Glu170Ala Single submitter ⚠
- p.Ile131Val Single submitter ⚠
- p.Ile162Thr Single submitter ⚠
- p.Leu216Phe Single submitter ⚠
- p.Met77fs Single submitter intellectual disability, X-linked 107
- p.Pro52Ser Single submitter ⚠
- p.Pro82Ala Single submitter intellectual disability, X-linked 107 ⚠
- p.Val119Ile Single submitter ⚠
- p.Glu165Gly No assertion criteria intellectual disability, X-linked 107 ⚠