AP1S3 — 34 ClinVar variants
All ClinVar germline AP1S3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
9 Benign · 3 Benign/Likely benign · 8 Likely benign · 14 Uncertain significance
Full AP1S3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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.
- AP1S3 p.Arg86Cys Uncertain significance Multiple submitters
- AP1S3 p.Arg42Ser Uncertain significance Single submitter
- AP1S3 p.Asp115His Uncertain significance Single submitter
- AP1S3 p.Glu72Asp Uncertain significance Single submitter
- AP1S3 p.Ile119Val Uncertain significance Single submitter
- AP1S3 p.Val88Leu Uncertain significance Single submitter
- AP1S3 p.Val98Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
-
AP1S3 p.Ile83Thr
Benign/Likely benign
Multiple submitters
psoriasis 15, pustular, susceptibility to
- AP1S3 p.Gln74Lys Uncertain significance Single submitter
- AP1S3 p.Gly43Asp Uncertain significance Single submitter
- AP1S3 p.Ile113Leu Uncertain significance Single submitter
- AP1S3 p.Ile31Thr Uncertain significance Single submitter
- AP1S3 p.Ile83Met Uncertain significance Single submitter
- AP1S3 p.Ser64Gly Uncertain significance Single submitter
- AP1S3 p.Thr32Ile Likely benign Single submitter
All AP1S3 variants
Benign 9
- c.183-137G>A Single submitter
- c.183-170A>G Single submitter
- c.183-78_183-77insTT Single submitter
- c.291+2651T>C Single submitter
- c.429+33ATG[8] Single submitter
- c.429+33ATG[9] Single submitter
- c.429+51_429+56dup Single submitter
- c.429+78dup Single submitter
- p.Leu79Val No assertion criteria AP1S3-related disorder
Benign/Likely benign 3
- p.Arg33Trp Multiple submitters psoriasis 15, pustular, susceptibility to
- p.Ile83Thr Multiple submitters psoriasis 15, pustular, susceptibility to ⚠
- p.Phe4Cys Multiple submitters psoriasis 15, pustular, susceptibility to
Likely benign 8
- p.Thr22Ala Multiple submitters psoriasis 15, pustular, susceptibility to
- c.292-4861C>T Single submitter
- p.Thr32Ile Single submitter ⚠
- c.3+8C>A No assertion criteria AP1S3-related disorder
- c.3+9G>C No assertion criteria AP1S3-related disorder
- c.4-7del No assertion criteria AP1S3-related disorder
- p.Glu89= No assertion criteria AP1S3-related disorder
- p.Thr80= No assertion criteria AP1S3-related disorder
Uncertain significance 14
- p.Arg86Cys Multiple submitters ⚠
- p.Arg10Ter Single submitter
- p.Arg42Ser Single submitter ⚠
- p.Asp115His Single submitter ⚠
- p.Gln74Lys Single submitter ⚠
- p.Glu72Asp Single submitter ⚠
- p.Gly43Asp Single submitter ⚠
- p.Ile113Leu Single submitter ⚠
- p.Ile119Val Single submitter ⚠
- p.Ile31Thr Single submitter ⚠
- p.Ile83Met Single submitter ⚠
- p.Ser64Gly Single submitter ⚠
- p.Val88Leu Single submitter ⚠
- p.Val98Ile Single submitter ⚠