PSENEN — 66 ClinVar variants
All ClinVar germline PSENEN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
6 Pathogenic · 1 Benign · 1 Benign/Likely benign · 29 Likely benign · 29 Uncertain significance
Full PSENEN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSENEN p.Ala46Asp Uncertain significance Multiple submitters
- PSENEN p.Arg82Gln Uncertain significance Multiple submitters
- PSENEN p.Arg84His Uncertain significance Multiple submitters
- PSENEN p.Gly86Cys Uncertain significance Multiple submitters
- PSENEN p.Leu43Phe Uncertain significance Multiple submitters
- PSENEN p.Thr100Asn Uncertain significance Multiple submitters
- PSENEN p.Ala41Asp Uncertain significance Single submitter
- PSENEN p.Arg39Leu Uncertain significance Single submitter
- PSENEN p.Arg59His Uncertain significance Single submitter
- PSENEN p.Arg82Trp Uncertain significance Single submitter
- PSENEN p.Gly22Glu Uncertain significance Single submitter
- PSENEN p.Phe25Leu Uncertain significance Single submitter
- PSENEN p.Trp58Gly Uncertain significance Single submitter
- PSENEN p.Trp58Ser Uncertain significance Single submitter
- PSENEN p.Val62Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- PSENEN p.Pro45Ser Uncertain significance Multiple submitters
- PSENEN p.Ala24Gly Uncertain significance Single submitter
- PSENEN p.Ala41Ser Likely benign Single submitter
- PSENEN p.Arg59Cys Uncertain significance Single submitter
- PSENEN p.Arg84Cys Uncertain significance Single submitter
- PSENEN p.Ile75Met Uncertain significance Single submitter
All PSENEN variants
Pathogenic 6
- c.66del Single submitter acne inversa, familial, 2
- c.167-2A>G No assertion criteria acne inversa, familial, 2
- c.62-1G>C No assertion criteria acne inversa, familial, 2
- p.Leu12Ter No assertion criteria acne inversa, familial, 2
- p.Leu65Arg No assertion criteria acne inversa, familial, 2
- p.Phe94fs No assertion criteria acne inversa, familial, 2
Benign 1
- p.Leu14= Single submitter
Benign/Likely benign 1
- c.61+17G>C Multiple submitters acne inversa, familial, 2
Likely benign 29
- p.Arg82= Multiple submitters
- p.Phe25= Multiple submitters
- c.166+12G>A Single submitter
- c.166+12G>T Single submitter
- c.166+8T>C Single submitter
- c.167-11T>C Single submitter
- c.167-14G>A Single submitter
- c.167-16C>G Single submitter
- c.167-18T>C Single submitter
- c.167-19C>T Single submitter
- c.167-4A>G Single submitter
- c.167-5G>A Single submitter
- c.167-8C>G Single submitter
- c.61+10A>G Single submitter
- c.61+13_61+21del Single submitter
- c.61+14C>T Single submitter
- c.61+17G>T Single submitter
- c.61+19G>A Single submitter
- p.Ala41Ser Single submitter ⚠
- p.Ala46= Single submitter
- p.Ile80= Single submitter
- p.Leu29= Single submitter
- p.Leu65= Single submitter
- p.Lys11= Single submitter
- p.Pro45= Single submitter
- p.Pro83= Single submitter
- p.Ter102= Single submitter
- p.Tyr19= Single submitter
- c.-187A>G No assertion criteria PSENEN-related disorder
Uncertain significance 29
- p.Ala46Asp Multiple submitters ⚠
- p.Arg82Gln Multiple submitters ⚠
- p.Arg84His Multiple submitters ⚠
- p.Gly86Cys Multiple submitters ⚠
- p.Leu43Phe Multiple submitters ⚠
- p.Pro45Ser Multiple submitters ⚠
- p.Thr100Asn Multiple submitters ⚠
- c.166+2dup Single submitter
- c.166+6_166+12del Single submitter
- c.166+6T>A Single submitter
- c.61+3A>G Single submitter
- p.Ala24Gly Single submitter ⚠
- p.Ala41Asp Single submitter ⚠
- p.Arg39Leu Single submitter ⚠
- p.Arg59Cys Single submitter ⚠
- p.Arg59His Single submitter ⚠
- p.Arg82Trp Single submitter ⚠
- p.Arg84Cys Single submitter ⚠
- p.Asn2Ser Single submitter
- p.Gly22Glu Single submitter ⚠
- p.Ile75Met Single submitter ⚠
- p.Leu88Pro Single submitter
- p.Phe25Leu Single submitter ⚠
- p.Thr95Ile Single submitter
- p.Trp58Gly Single submitter ⚠
- p.Trp58Ser Single submitter ⚠
- p.Tyr56Ter Single submitter
- p.Val62fs Single submitter acne inversa, familial, 2
- p.Val62Met Single submitter ⚠