SP1 — 67 ClinVar variants
All ClinVar germline SP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
2 Benign · 4 Likely benign · 61 Uncertain significance
Full SP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SP1 p.Ala13Gly Uncertain significance Single submitter
- SP1 p.Ala210Thr Uncertain significance Single submitter
- SP1 p.Ala227Gly Uncertain significance Single submitter
- SP1 p.Ala275Pro Uncertain significance Single submitter
- SP1 p.Ala429Val Uncertain significance Single submitter
- SP1 p.Ala513Thr Uncertain significance Single submitter
- SP1 p.Ala563Gly Uncertain significance Single submitter
- SP1 p.Ala730Thr Uncertain significance Single submitter
- SP1 p.Ala753Thr Uncertain significance Single submitter
- SP1 p.Arg39Gln Uncertain significance Single submitter
- SP1 p.Arg452Gln Uncertain significance Single submitter
- SP1 p.Asn25Ser Uncertain significance Single submitter
- SP1 p.Asn28Thr Uncertain significance Single submitter
- SP1 p.Asn323Ser Uncertain significance Single submitter
- SP1 p.Asn768Ser Uncertain significance Single submitter
- SP1 p.Asn779Ser Uncertain significance Single submitter
- SP1 p.Asn783Ser Uncertain significance Single submitter
- SP1 p.Gln314His Uncertain significance Single submitter
- SP1 p.Gln631Arg Uncertain significance Single submitter
- SP1 p.Glu389Gly Uncertain significance Single submitter
- SP1 p.Gly20Glu Uncertain significance Single submitter
- SP1 p.Gly489Ser Uncertain significance Single submitter
- SP1 p.Gly559Asp Uncertain significance Single submitter
- SP1 p.Gly585Arg Uncertain significance Single submitter
- SP1 p.His561Arg Uncertain significance Single submitter
- SP1 p.Leu266Phe Uncertain significance Single submitter
- SP1 p.Leu420Ser Uncertain significance Single submitter
- SP1 p.Leu537Val Uncertain significance Single submitter
- SP1 p.Leu565Val Uncertain significance Single submitter
- SP1 p.Leu743Val Uncertain significance Single submitter
- SP1 p.Met228Val Uncertain significance Single submitter
- SP1 p.Met487Val Uncertain significance Single submitter
- SP1 p.Pro237Ser Uncertain significance Single submitter
- SP1 p.Pro298Arg Uncertain significance Single submitter
- SP1 p.Pro356Leu Uncertain significance Single submitter
- SP1 p.Pro419Ser Uncertain significance Single submitter
- SP1 p.Pro620Ser Uncertain significance Single submitter
- SP1 p.Ser326Thr Uncertain significance Single submitter
- SP1 p.Ser376Thr Uncertain significance Single submitter
- SP1 p.Ser379Pro Uncertain significance Single submitter
- SP1 p.Ser617Leu Uncertain significance Single submitter
- SP1 p.Thr331Ala Uncertain significance Single submitter
- SP1 p.Thr355Ala Uncertain significance Single submitter
- SP1 p.Thr43Ile Uncertain significance Single submitter
- SP1 p.Val269Ile Uncertain significance Single submitter
- SP1 p.Val311Leu Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- SP1 p.Asn476Lys Uncertain significance Single submitter
- SP1 p.Gln488Arg Uncertain significance Single submitter
- SP1 p.Gln543Glu Uncertain significance Single submitter
- SP1 p.Gly209Arg Uncertain significance Single submitter
- SP1 p.Gly493Arg Uncertain significance Single submitter
- SP1 p.Ile171Thr Uncertain significance Single submitter
- SP1 p.Ile401Thr Uncertain significance Single submitter
- SP1 p.Leu435Phe Uncertain significance Single submitter
- SP1 p.Phe189Leu Uncertain significance Single submitter
- SP1 p.Pro486Gln Uncertain significance Single submitter
- SP1 p.Ser48Arg Uncertain significance Single submitter
- SP1 p.Thr330Ile Uncertain significance Single submitter
- SP1 p.Tyr147Cys Uncertain significance Single submitter
All SP1 variants
Likely benign 4
Uncertain significance 61
- p.Ala13Gly Single submitter ⚠
- p.Ala210Thr Single submitter ⚠
- p.Ala227Gly Single submitter ⚠
- p.Ala275Pro Single submitter ⚠
- p.Ala429Val Single submitter ⚠
- p.Ala513Thr Single submitter ⚠
- p.Ala563Gly Single submitter ⚠
- p.Ala730Thr Single submitter ⚠
- p.Ala753Thr Single submitter ⚠
- p.Ala760Val Single submitter
- p.Arg39Gln Single submitter ⚠
- p.Arg452Gln Single submitter ⚠
- p.Arg761His Single submitter
- p.Asn25Ser Single submitter ⚠
- p.Asn28Thr Single submitter ⚠
- p.Asn323Ser Single submitter ⚠
- p.Asn476Lys Single submitter ⚠
- p.Asn768Ser Single submitter ⚠
- p.Asn779Ser Single submitter ⚠
- p.Asn783Ser Single submitter ⚠
- p.Gln314His Single submitter ⚠
- p.Gln488Arg Single submitter ⚠
- p.Gln543Glu Single submitter ⚠
- p.Gln631Arg Single submitter ⚠
- p.Glu389Gly Single submitter ⚠
- p.Gly209Arg Single submitter ⚠
- p.Gly20Glu Single submitter ⚠
- p.Gly489Ser Single submitter ⚠
- p.Gly493Arg Single submitter ⚠
- p.Gly559Asp Single submitter ⚠
- p.Gly585Arg Single submitter ⚠
- p.His561Arg Single submitter ⚠
- p.Ile171Thr Single submitter ⚠
- p.Ile401Thr Single submitter ⚠
- p.Leu266Phe Single submitter ⚠
- p.Leu420Ser Single submitter ⚠
- p.Leu435Phe Single submitter ⚠
- p.Leu537Val Single submitter ⚠
- p.Leu565Val Single submitter ⚠
- p.Leu743Val Single submitter ⚠
- p.Met228Val Single submitter ⚠
- p.Met487Val Single submitter ⚠
- p.Phe189Leu Single submitter ⚠
- p.Pro237Ser Single submitter ⚠
- p.Pro298Arg Single submitter ⚠
- p.Pro356Leu Single submitter ⚠
- p.Pro419Ser Single submitter ⚠
- p.Pro486Gln Single submitter ⚠
- p.Pro620Ser Single submitter ⚠
- p.Ser326Thr Single submitter ⚠
- p.Ser376Thr Single submitter ⚠
- p.Ser379Pro Single submitter ⚠
- p.Ser48Arg Single submitter ⚠
- p.Ser617Leu Single submitter ⚠
- p.Thr330Ile Single submitter ⚠
- p.Thr331Ala Single submitter ⚠
- p.Thr355Ala Single submitter ⚠
- p.Thr43Ile Single submitter ⚠
- p.Tyr147Cys Single submitter ⚠
- p.Val269Ile Single submitter ⚠
- p.Val311Leu Single submitter ⚠