SACM1L — 54 ClinVar variants
All ClinVar germline SACM1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
1 Likely benign · 53 Uncertain significance
Full SACM1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SACM1L p.Leu455Ser Uncertain significance Multiple submitters
- SACM1L p.Ala27Thr Uncertain significance Single submitter
- SACM1L p.Ala444Val Uncertain significance Single submitter
- SACM1L p.Ala577Ser Uncertain significance Single submitter
- SACM1L p.Arg184Gln Uncertain significance Single submitter
- SACM1L p.Arg226Ile Uncertain significance Single submitter
- SACM1L p.Arg267Lys Uncertain significance Single submitter
- SACM1L p.Asn127His Uncertain significance Single submitter
- SACM1L p.Asn127Tyr Uncertain significance Single submitter
- SACM1L p.Asn148Ser Uncertain significance Single submitter
- SACM1L p.Asn236His Uncertain significance Single submitter
- SACM1L p.Asn236Ser Uncertain significance Single submitter
- SACM1L p.Asp207His Uncertain significance Single submitter
- SACM1L p.Asp25Glu Uncertain significance Single submitter
- SACM1L p.Asp94Glu Uncertain significance Single submitter
- SACM1L p.Cys199Ser Uncertain significance Single submitter
- SACM1L p.Cys199Tyr Uncertain significance Single submitter
- SACM1L p.Gln363Leu Uncertain significance Single submitter
- SACM1L p.Glu21Lys Uncertain significance Single submitter
- SACM1L p.Gly232Ala Uncertain significance Single submitter
- SACM1L p.Gly331Arg Uncertain significance Single submitter
- SACM1L p.His419Tyr Uncertain significance Single submitter
- SACM1L p.His510Gln Uncertain significance Single submitter
- SACM1L p.Ile243Met Uncertain significance Single submitter
- SACM1L p.Ile471Lys Uncertain significance Single submitter
- SACM1L p.Ile73Val Uncertain significance Single submitter
- SACM1L p.Leu540His Uncertain significance Single submitter
- SACM1L p.Lys345Glu Uncertain significance Single submitter
- SACM1L p.Lys46Thr Uncertain significance Single submitter
- SACM1L p.Met104Val Uncertain significance Single submitter
- SACM1L p.Met196Thr Uncertain significance Single submitter
- SACM1L p.Met332Leu Uncertain significance Single submitter
- SACM1L p.Met478Val Uncertain significance Single submitter
- SACM1L p.Pro316Ala Uncertain significance Single submitter
- SACM1L p.Pro516Ala Uncertain significance Single submitter
- SACM1L p.Ser313Leu Uncertain significance Single submitter
- SACM1L p.Thr41Ile Uncertain significance Single submitter
- SACM1L p.Trp556Arg Uncertain significance Single submitter
- SACM1L p.Val125Ile Uncertain significance Single submitter
- SACM1L p.Val30Ile Uncertain significance Single submitter
- SACM1L p.Val89Ala Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- SACM1L p.Ala52Pro Uncertain significance Single submitter
- SACM1L p.Arg145Gln Uncertain significance Single submitter
- SACM1L p.Arg405His Uncertain significance Single submitter
- SACM1L p.Asp372Tyr Uncertain significance Single submitter
- SACM1L p.Gly248Ala Uncertain significance Single submitter
- SACM1L p.Phe58Leu Uncertain significance Single submitter
- SACM1L p.Ser326Cys Uncertain significance Single submitter
- SACM1L p.Tyr137Cys Uncertain significance Single submitter
- SACM1L p.Tyr502Cys Uncertain significance Single submitter
- SACM1L p.Val225Ala Uncertain significance Single submitter
All SACM1L variants
Likely benign 1
- p.Ile201Val Single submitter
Uncertain significance 53
- p.Leu455Ser Multiple submitters ⚠
- p.Ala27Thr Single submitter ⚠
- p.Ala444Val Single submitter ⚠
- p.Ala52Pro Single submitter ⚠
- p.Ala577Ser Single submitter ⚠
- p.Ala92Gly Single submitter
- p.Arg145Gln Single submitter ⚠
- p.Arg184Gln Single submitter ⚠
- p.Arg226Ile Single submitter ⚠
- p.Arg267Lys Single submitter ⚠
- p.Arg405His Single submitter ⚠
- p.Asn127His Single submitter ⚠
- p.Asn127Tyr Single submitter ⚠
- p.Asn148Ser Single submitter ⚠
- p.Asn236His Single submitter ⚠
- p.Asn236Ser Single submitter ⚠
- p.Asp207His Single submitter ⚠
- p.Asp25Glu Single submitter ⚠
- p.Asp372Tyr Single submitter ⚠
- p.Asp94Glu Single submitter ⚠
- p.Cys199Ser Single submitter ⚠
- p.Cys199Tyr Single submitter ⚠
- p.Gln363Leu Single submitter ⚠
- p.Glu21Lys Single submitter ⚠
- p.Gly232Ala Single submitter ⚠
- p.Gly248Ala Single submitter ⚠
- p.Gly331Arg Single submitter ⚠
- p.His419Tyr Single submitter ⚠
- p.His510Gln Single submitter ⚠
- p.Ile243Met Single submitter ⚠
- p.Ile471Lys Single submitter ⚠
- p.Ile73Val Single submitter ⚠
- p.Leu540His Single submitter ⚠
- p.Lys345Glu Single submitter ⚠
- p.Lys46Thr Single submitter ⚠
- p.Met104Val Single submitter ⚠
- p.Met196Thr Single submitter ⚠
- p.Met332Leu Single submitter ⚠
- p.Met478Val Single submitter ⚠
- p.Phe58Leu Single submitter ⚠
- p.Pro316Ala Single submitter ⚠
- p.Pro516Ala Single submitter ⚠
- p.Ser313Leu Single submitter ⚠
- p.Ser326Cys Single submitter ⚠
- p.Thr41Ile Single submitter ⚠
- p.Trp556Arg Single submitter ⚠
- p.Tyr137Cys Single submitter ⚠
- p.Tyr502Cys Single submitter ⚠
- p.Val125Ile Single submitter ⚠
- p.Val225Ala Single submitter ⚠
- p.Val244Met Single submitter
- p.Val30Ile Single submitter ⚠
- p.Val89Ala Single submitter ⚠