CYSTM1 — 13 ClinVar variants
All ClinVar germline CYSTM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
13 Uncertain significance
Full CYSTM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYSTM1 p.Arg71Lys Uncertain significance Single submitter
- CYSTM1 p.Glu73Lys Uncertain significance Single submitter
- CYSTM1 p.Gly40Val Uncertain significance Single submitter
- CYSTM1 p.Gly50Ser Uncertain significance Single submitter
- CYSTM1 p.Gly53Ser Uncertain significance Single submitter
- CYSTM1 p.Pro14Ser Uncertain significance Single submitter
- CYSTM1 p.Pro76Ser Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CYSTM1 p.Arg71Ile Uncertain significance Single submitter
- CYSTM1 p.Gly40Ala Uncertain significance Single submitter
- CYSTM1 p.Gly54Arg Uncertain significance Single submitter
- CYSTM1 p.Pro36Ser Uncertain significance Single submitter
- CYSTM1 p.Thr78Ile Uncertain significance Single submitter
- CYSTM1 p.Val66Ala Uncertain significance Single submitter
All CYSTM1 variants
Uncertain significance 13
- p.Arg71Ile Single submitter ⚠
- p.Arg71Lys Single submitter ⚠
- p.Glu73Lys Single submitter ⚠
- p.Gly40Ala Single submitter ⚠
- p.Gly40Val Single submitter ⚠
- p.Gly50Ser Single submitter ⚠
- p.Gly53Ser Single submitter ⚠
- p.Gly54Arg Single submitter ⚠
- p.Pro14Ser Single submitter ⚠
- p.Pro36Ser Single submitter ⚠
- p.Pro76Ser Single submitter ⚠
- p.Thr78Ile Single submitter ⚠
- p.Val66Ala Single submitter ⚠