ST7 — 53 ClinVar variants
All ClinVar germline ST7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Likely pathogenic · 3 Benign · 7 Likely benign · 42 Uncertain significance
Full ST7 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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ST7 c.1638+799A>T Uncertain significance Single submitter
- ST7 c.1638+818C>T Uncertain significance Single submitter
- ST7 c.1638+859C>T Uncertain significance Single submitter
- ST7 c.1638+880A>G Uncertain significance Single submitter
- ST7 c.1638+887C>T Uncertain significance Single submitter
- ST7 p.Ala188Gly Uncertain significance Single submitter
- ST7 p.Ala389Ser Uncertain significance Single submitter
- ST7 p.Ala4Val Uncertain significance Single submitter
- ST7 p.Arg273His Uncertain significance Single submitter
- ST7 p.Arg311Lys Uncertain significance Single submitter
- ST7 p.Asn111Ser Uncertain significance Single submitter
- ST7 p.Asn126Tyr Uncertain significance Single submitter
- ST7 p.Asn47Ser Uncertain significance Single submitter
- ST7 p.Asp46Asn Uncertain significance Single submitter
- ST7 p.Gly457Arg Uncertain significance Single submitter
- ST7 p.His280Asn Uncertain significance Single submitter
- ST7 p.Ile16Leu Uncertain significance Single submitter
- ST7 p.Leu38Pro Uncertain significance Single submitter
- ST7 p.Phe29Leu Uncertain significance Single submitter
- ST7 p.Phe33Leu Uncertain significance Single submitter
- ST7 p.Pro537Leu Uncertain significance Single submitter
- ST7 p.Ser116Thr Uncertain significance Single submitter
- ST7 p.Ser500Phe Uncertain significance Single submitter
- ST7 p.Thr312Ile Uncertain significance Single submitter
- ST7 p.Thr6Arg Uncertain significance Single submitter
- ST7 p.Val130Ile Uncertain significance Single submitter
- ST7 p.Val542Phe Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- ST7 p.Arg150Trp Uncertain significance Single submitter
- ST7 p.Arg184His Uncertain significance Single submitter
- ST7 p.Arg313Gly Uncertain significance Single submitter
- ST7 p.Arg495Gln Uncertain significance Single submitter
- ST7 p.Asp494Glu Uncertain significance Single submitter
- ST7 p.Leu295Phe Uncertain significance Single submitter
- ST7 p.Leu38Gln Uncertain significance Single submitter
- ST7 p.Leu48Ser Uncertain significance Single submitter
- ST7 p.Lys43Thr Uncertain significance Single submitter
- ST7 p.Met304Val Uncertain significance Single submitter
- ST7 p.Ser49Arg Uncertain significance Single submitter
All ST7 variants
Likely pathogenic 1
- p.Tyr163Ter No assertion criteria Global developmental delay
Benign 3
- c.1638+8T>C Single submitter
- p.Ser180= Single submitter
- c.1078+7T>C No assertion criteria ST7-related disorder
Likely benign 7
- c.1638+860G>T Multiple submitters
- c.1638+917G>T Multiple submitters
- p.Arg150= Single submitter
- p.Gln278= Single submitter
- c.1406-8G>A No assertion criteria ST7-related disorder
- c.1639-3C>A No assertion criteria ST7-related disorder
- p.Thr465= No assertion criteria ST7-related disorder
Uncertain significance 42
- c.1638+799A>T Single submitter ⚠
- c.1638+818C>T Single submitter ⚠
- c.1638+859C>T Single submitter ⚠
- c.1638+880A>G Single submitter ⚠
- c.1638+887C>T Single submitter ⚠
- p.Ala188Gly Single submitter ⚠
- p.Ala389Ser Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Arg150Trp Single submitter ⚠
- p.Arg184His Single submitter ⚠
- p.Arg273Cys Single submitter
- p.Arg273His Single submitter ⚠
- p.Arg311Lys Single submitter ⚠
- p.Arg313Gly Single submitter ⚠
- p.Arg495Gln Single submitter ⚠
- p.Asn111Ser Single submitter ⚠
- p.Asn126Tyr Single submitter ⚠
- p.Asn47Ser Single submitter ⚠
- p.Asp46Asn Single submitter ⚠
- p.Asp494Glu Single submitter ⚠
- p.Gly457Arg Single submitter ⚠
- p.His280Asn Single submitter ⚠
- p.Ile16Leu Single submitter ⚠
- p.Leu295Phe Single submitter ⚠
- p.Leu38Gln Single submitter ⚠
- p.Leu38Pro Single submitter ⚠
- p.Leu48Ser Single submitter ⚠
- p.Lys43Thr Single submitter ⚠
- p.Met304Val Single submitter ⚠
- p.Phe29Leu Single submitter ⚠
- p.Phe33Leu Single submitter ⚠
- p.Pro537Leu Single submitter ⚠
- p.Ser116Thr Single submitter ⚠
- p.Ser49Arg Single submitter ⚠
- p.Ser500Phe Single submitter ⚠
- p.Ser564Arg Single submitter
- p.Ser564Gly Single submitter
- p.Thr312Ile Single submitter ⚠
- p.Thr6Arg Single submitter ⚠
- p.Trp18Ter Single submitter
- p.Val130Ile Single submitter ⚠
- p.Val542Phe Single submitter ⚠