ASPSCR1 — 108 ClinVar variants
All ClinVar germline ASPSCR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
11 Likely benign · 97 Uncertain significance
Full ASPSCR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASPSCR1 p.Ala191Pro Uncertain significance Single submitter
- ASPSCR1 p.Ala218Thr Uncertain significance Single submitter
- ASPSCR1 p.Ala240Val Uncertain significance Single submitter
- ASPSCR1 p.Ala521Val Uncertain significance Single submitter
- ASPSCR1 p.Ala5Gly Uncertain significance Single submitter
- ASPSCR1 p.Arg209Cys Uncertain significance Single submitter
- ASPSCR1 p.Arg209His Uncertain significance Single submitter
- ASPSCR1 p.Arg214Leu Uncertain significance Single submitter
- ASPSCR1 p.Arg311Gln Uncertain significance Single submitter
- ASPSCR1 p.Arg315Gln Uncertain significance Single submitter
- ASPSCR1 p.Arg354Lys Uncertain significance Single submitter
- ASPSCR1 p.Arg355His Uncertain significance Single submitter
- ASPSCR1 p.Arg417Gln Uncertain significance Single submitter
- ASPSCR1 p.Asp211Asn Uncertain significance Single submitter
- ASPSCR1 p.Asp487Asn Uncertain significance Single submitter
- ASPSCR1 p.Gln297Arg Uncertain significance Single submitter
- ASPSCR1 p.Gln307Arg Uncertain significance Single submitter
- ASPSCR1 p.Gln43Arg Uncertain significance Single submitter
- ASPSCR1 p.Gln451Glu Uncertain significance Single submitter
- ASPSCR1 p.Glu230Lys Uncertain significance Single submitter
- ASPSCR1 p.Glu321Gln Uncertain significance Single submitter
- ASPSCR1 p.Glu519Asp Uncertain significance Single submitter
- ASPSCR1 p.Glu77Gly Uncertain significance Single submitter
- ASPSCR1 p.Gly133Arg Uncertain significance Single submitter
- ASPSCR1 p.Gly248Arg Uncertain significance Single submitter
- ASPSCR1 p.Gly249Glu Uncertain significance Single submitter
- ASPSCR1 p.Gly405Ser Uncertain significance Single submitter
- ASPSCR1 p.Gly6Ala Uncertain significance Single submitter
- ASPSCR1 p.Ile94Val Uncertain significance Single submitter
- ASPSCR1 p.Leu200Pro Uncertain significance Single submitter
- ASPSCR1 p.Leu333Gln Uncertain significance Single submitter
- ASPSCR1 p.Lys286Gln Uncertain significance Single submitter
- ASPSCR1 p.Met172Thr Uncertain significance Single submitter
- ASPSCR1 p.Met78Leu Uncertain significance Single submitter
- ASPSCR1 p.Pro276Ala Uncertain significance Single submitter
- ASPSCR1 p.Pro456Leu Uncertain significance Single submitter
- ASPSCR1 p.Pro525Ala Uncertain significance Single submitter
- ASPSCR1 p.Ser266Ala Uncertain significance Single submitter
- ASPSCR1 p.Thr167Ala Uncertain significance Single submitter
- ASPSCR1 p.Thr446Arg Uncertain significance Single submitter
- ASPSCR1 p.Trp65Arg Uncertain significance Single submitter
- ASPSCR1 p.Val372Gly Uncertain significance Single submitter
- ASPSCR1 p.Val79Met Uncertain significance Single submitter
Predictors split 55
The independent predictors disagree with each other — read with care.
- ASPSCR1 p.Ala498Thr Uncertain significance Single submitter
- ASPSCR1 p.Ala95Thr Uncertain significance Single submitter
- ASPSCR1 p.Arg142Lys Uncertain significance Single submitter
- ASPSCR1 p.Arg152Trp Uncertain significance Single submitter
- ASPSCR1 p.Arg311Leu Uncertain significance Single submitter
- ASPSCR1 p.Arg311Trp Uncertain significance Single submitter
- ASPSCR1 p.Arg315Trp Uncertain significance Single submitter
- ASPSCR1 p.Arg320Trp Uncertain significance Single submitter
- ASPSCR1 p.Arg332Trp Uncertain significance Single submitter
- ASPSCR1 p.Arg354Gly Uncertain significance Single submitter
- ASPSCR1 p.Arg365Cys Uncertain significance Single submitter
- ASPSCR1 p.Arg400Cys Uncertain significance Single submitter
- ASPSCR1 p.Arg400Gly Uncertain significance Single submitter
- ASPSCR1 p.Arg400His Uncertain significance Single submitter
- ASPSCR1 p.Arg408Cys Uncertain significance Single submitter
- ASPSCR1 p.Arg41Gln Uncertain significance Single submitter
- ASPSCR1 p.Arg41Trp Uncertain significance Single submitter
- ASPSCR1 p.Arg421Lys Uncertain significance Single submitter
- ASPSCR1 p.Arg42Gln Uncertain significance Single submitter
- ASPSCR1 p.Arg42Trp Uncertain significance Single submitter
- ASPSCR1 p.Arg83Trp Uncertain significance Single submitter
- ASPSCR1 p.Arg85His Uncertain significance Single submitter
- ASPSCR1 p.Arg93His Uncertain significance Single submitter
- ASPSCR1 p.Arg93Leu Uncertain significance Single submitter
- ASPSCR1 p.Asn18Asp Uncertain significance Single submitter
- ASPSCR1 p.Asn69Ser Uncertain significance Single submitter
- ASPSCR1 p.Asp399Asn Uncertain significance Single submitter
- ASPSCR1 p.Asp443Tyr Uncertain significance Single submitter
- ASPSCR1 p.Cys109Phe Uncertain significance Single submitter
- ASPSCR1 p.Glu478Val Uncertain significance Single submitter
- ASPSCR1 p.Gly163Trp Uncertain significance Single submitter
- ASPSCR1 p.Gly9Asp Uncertain significance Single submitter
- ASPSCR1 p.Leu207Phe Uncertain significance Single submitter
- ASPSCR1 p.Leu269Phe Uncertain significance Single submitter
- ASPSCR1 p.Leu63Val Uncertain significance Single submitter
- ASPSCR1 p.Met78Ile Uncertain significance Single submitter
- ASPSCR1 p.Phe406Cys Uncertain significance Single submitter
- ASPSCR1 p.Pro244Ala Uncertain significance Single submitter
- ASPSCR1 p.Pro322Leu Uncertain significance Single submitter
- ASPSCR1 p.Pro427Ser Uncertain significance Single submitter
- ASPSCR1 p.Pro467Leu Uncertain significance Single submitter
- ASPSCR1 p.Pro507His Uncertain significance Single submitter
- ASPSCR1 p.Ser102Leu Uncertain significance Single submitter
- ASPSCR1 p.Ser187Leu Uncertain significance Single submitter
- ASPSCR1 p.Ser188Leu Uncertain significance Single submitter
- ASPSCR1 p.Ser265Phe Uncertain significance Single submitter
- ASPSCR1 p.Ser272Phe Uncertain significance Single submitter
- ASPSCR1 p.Ser482Ala Uncertain significance Single submitter
- ASPSCR1 p.Ser57Arg Uncertain significance Single submitter
- ASPSCR1 p.Ser82Phe Uncertain significance Single submitter
- ASPSCR1 p.Thr146Met Likely benign Single submitter
- ASPSCR1 p.Thr39Met Uncertain significance Single submitter
- ASPSCR1 p.Thr531Met Uncertain significance Single submitter
- ASPSCR1 p.Val145Met Uncertain significance Single submitter
- ASPSCR1 p.Val535Met Uncertain significance Single submitter
All ASPSCR1 variants
Likely benign 11
- p.Ala189Val Single submitter
- p.Ala198Thr Single submitter
- p.Ala516Thr Single submitter
- p.Arg152Gln Single submitter
- p.Cys224Ser Single submitter
- p.Glu465Lys Single submitter
- p.Gly132Ser Single submitter
- p.Ile381Met Single submitter
- p.Thr146Met Single submitter ⚠
- p.Tyr175Cys Single submitter
- p.Tyr493Cys Single submitter
Uncertain significance 97
- p.Ala191Pro Single submitter ⚠
- p.Ala218Thr Single submitter ⚠
- p.Ala240Val Single submitter ⚠
- p.Ala498Thr Single submitter ⚠
- p.Ala521Val Single submitter ⚠
- p.Ala5Gly Single submitter ⚠
- p.Ala95Thr Single submitter ⚠
- p.Arg142Lys Single submitter ⚠
- p.Arg152Trp Single submitter ⚠
- p.Arg209Cys Single submitter ⚠
- p.Arg209His Single submitter ⚠
- p.Arg214Leu Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg311Leu Single submitter ⚠
- p.Arg311Trp Single submitter ⚠
- p.Arg315Gln Single submitter ⚠
- p.Arg315Trp Single submitter ⚠
- p.Arg320Trp Single submitter ⚠
- p.Arg332Trp Single submitter ⚠
- p.Arg354Gly Single submitter ⚠
- p.Arg354Lys Single submitter ⚠
- p.Arg355His Single submitter ⚠
- p.Arg365Cys Single submitter ⚠
- p.Arg400Cys Single submitter ⚠
- p.Arg400Gly Single submitter ⚠
- p.Arg400His Single submitter ⚠
- p.Arg408Cys Single submitter ⚠
- p.Arg417Gln Single submitter ⚠
- p.Arg41Gln Single submitter ⚠
- p.Arg41Trp Single submitter ⚠
- p.Arg421Lys Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Arg42Trp Single submitter ⚠
- p.Arg83Trp Single submitter ⚠
- p.Arg85His Single submitter ⚠
- p.Arg93His Single submitter ⚠
- p.Arg93Leu Single submitter ⚠
- p.Asn18Asp Single submitter ⚠
- p.Asn69Ser Single submitter ⚠
- p.Asp211Asn Single submitter ⚠
- p.Asp399Asn Single submitter ⚠
- p.Asp443Tyr Single submitter ⚠
- p.Asp487Asn Single submitter ⚠
- p.Cys109Phe Single submitter ⚠
- p.Gln297Arg Single submitter ⚠
- p.Gln307Arg Single submitter ⚠
- p.Gln43Arg Single submitter ⚠
- p.Gln451Glu Single submitter ⚠
- p.Glu230Lys Single submitter ⚠
- p.Glu321Gln Single submitter ⚠
- p.Glu478Val Single submitter ⚠
- p.Glu519Asp Single submitter ⚠
- p.Glu77Gly Single submitter ⚠
- p.Gly133Arg Single submitter ⚠
- p.Gly163Trp Single submitter ⚠
- p.Gly248Arg Single submitter ⚠
- p.Gly249Glu Single submitter ⚠
- p.Gly405Ser Single submitter ⚠
- p.Gly6Ala Single submitter ⚠
- p.Gly9Asp Single submitter ⚠
- p.Ile94Val Single submitter ⚠
- p.Leu200Pro Single submitter ⚠
- p.Leu207Phe Single submitter ⚠
- p.Leu269Phe Single submitter ⚠
- p.Leu333Gln Single submitter ⚠
- p.Leu63Val Single submitter ⚠
- p.Lys286Gln Single submitter ⚠
- p.Met172Thr Single submitter ⚠
- p.Met78Ile Single submitter ⚠
- p.Met78Leu Single submitter ⚠
- p.Phe406Cys Single submitter ⚠
- p.Pro244Ala Single submitter ⚠
- p.Pro276Ala Single submitter ⚠
- p.Pro322Leu Single submitter ⚠
- p.Pro427Ser Single submitter ⚠
- p.Pro456Leu Single submitter ⚠
- p.Pro467Leu Single submitter ⚠
- p.Pro507His Single submitter ⚠
- p.Pro525Ala Single submitter ⚠
- p.Ser102Leu Single submitter ⚠
- p.Ser187Leu Single submitter ⚠
- p.Ser188Leu Single submitter ⚠
- p.Ser265Phe Single submitter ⚠
- p.Ser266Ala Single submitter ⚠
- p.Ser272Phe Single submitter ⚠
- p.Ser482Ala Single submitter ⚠
- p.Ser57Arg Single submitter ⚠
- p.Ser82Phe Single submitter ⚠
- p.Thr167Ala Single submitter ⚠
- p.Thr39Met Single submitter ⚠
- p.Thr446Arg Single submitter ⚠
- p.Thr531Met Single submitter ⚠
- p.Trp65Arg Single submitter ⚠
- p.Val145Met Single submitter ⚠
- p.Val372Gly Single submitter ⚠
- p.Val535Met Single submitter ⚠
- p.Val79Met Single submitter ⚠