LRPAP1 — 75 ClinVar variants
All ClinVar germline LRPAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 5 Benign · 2 Benign/Likely benign · 13 Likely benign · 52 Uncertain significance
Full LRPAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- LRPAP1 p.Arg110Thr Uncertain significance Multiple submitters
- LRPAP1 p.Ala264Ser Uncertain significance Single submitter
- LRPAP1 p.Ala267Thr Uncertain significance Single submitter
- LRPAP1 p.Ala92Ser Uncertain significance Single submitter
- LRPAP1 p.Ala92Thr Uncertain significance Single submitter
- LRPAP1 p.Arg239His Uncertain significance Single submitter
- LRPAP1 p.Arg278Gln Uncertain significance Single submitter
- LRPAP1 p.Arg353Gly Uncertain significance Single submitter
- LRPAP1 p.Arg353Trp Uncertain significance Single submitter
- LRPAP1 p.Asn116Asp Uncertain significance Single submitter
- LRPAP1 p.Asn187Ser Uncertain significance Single submitter
- LRPAP1 p.Asn268Ser Uncertain significance Single submitter
- LRPAP1 p.Asp125Glu Uncertain significance Single submitter
- LRPAP1 p.Asp129Tyr Uncertain significance Single submitter
- LRPAP1 p.Glu108Lys Uncertain significance Single submitter
- LRPAP1 p.Glu167Lys Uncertain significance Single submitter
- LRPAP1 p.Glu197Lys Uncertain significance Single submitter
- LRPAP1 p.Glu249Asp Uncertain significance Single submitter
- LRPAP1 p.Gly166Arg Uncertain significance Single submitter
- LRPAP1 p.His184Gln Uncertain significance Single submitter
- LRPAP1 p.His243Arg Uncertain significance Single submitter
- LRPAP1 p.His243Tyr Uncertain significance Single submitter
- LRPAP1 p.Ile231Val Uncertain significance Single submitter
- LRPAP1 p.Leu115Ile Uncertain significance Single submitter
- LRPAP1 p.Leu177Val Uncertain significance Single submitter
- LRPAP1 p.Leu96Val Uncertain significance Single submitter
- LRPAP1 p.Lys213Thr Uncertain significance Single submitter
- LRPAP1 p.Ser207Thr Uncertain significance Single submitter
- LRPAP1 p.Ser230Arg Uncertain significance Single submitter
- LRPAP1 p.Ser230Gly Uncertain significance Single submitter
- LRPAP1 p.Ser247Asn Uncertain significance Single submitter
- LRPAP1 p.Thr192Ile Uncertain significance Single submitter
- LRPAP1 p.Thr222Met Uncertain significance Single submitter
- LRPAP1 p.Val203Ile Uncertain significance Single submitter
-
LRPAP1 p.Asn116Ser
Uncertain significance
No assertion criteria
prostate cancer
Predictors split 13
The independent predictors disagree with each other — read with care.
- LRPAP1 p.Arg113Cys Uncertain significance Single submitter
- LRPAP1 p.Arg239Cys Uncertain significance Single submitter
- LRPAP1 p.Asn202Asp Uncertain significance Single submitter
- LRPAP1 p.Asn202Lys Uncertain significance Single submitter
- LRPAP1 p.Asn268Thr Uncertain significance Single submitter
- LRPAP1 p.Gly126Val Uncertain significance Single submitter
- LRPAP1 p.His354Asp Uncertain significance Single submitter
- LRPAP1 p.Leu357Phe Uncertain significance Single submitter
- LRPAP1 p.Lys121Met Uncertain significance Single submitter
- LRPAP1 p.Phe252Leu Uncertain significance Single submitter
- LRPAP1 p.Ser346Cys Uncertain significance Single submitter
- LRPAP1 p.Thr222Pro Uncertain significance Single submitter
- LRPAP1 p.Thr270Met Uncertain significance Single submitter
All LRPAP1 variants
Pathogenic 2
- p.Asn202fs Single submitter myopia 23, autosomal recessive
- p.Asp236fs Single submitter myopia 23, autosomal recessive
Likely pathogenic 1
- c.751+1G>A Single submitter myopia 23, autosomal recessive
Benign 5
- p.Gly166= Multiple submitters
- p.Ile199Val Multiple submitters
- p.His184= Single submitter
- p.Ala250= No assertion criteria LRPAP1-related disorder
- p.Asn114Ser No assertion criteria LRPAP1-related disorder
Benign/Likely benign 2
- p.Ala109= Multiple submitters
- p.Gly166Ser Multiple submitters
Likely benign 13
- p.Asp211Asn Multiple submitters
- c.592+10G>A Single submitter
- p.Ala130Thr Single submitter
- p.Ala276Ser Single submitter
- p.Glu103Lys Single submitter
- p.Gly347Ser Single submitter
- p.Leu269Phe Single submitter
- p.Lys213= Single submitter
- p.Phe277Leu Single submitter
- p.Ser205= Single submitter
- p.Ser207Leu Single submitter
- c.752-9C>A No assertion criteria LRPAP1-related disorder
- c.*5A>G No assertion criteria LRPAP1-related disorder
Uncertain significance 52
- p.Arg110Thr Multiple submitters ⚠
- c.593-98C>T Single submitter myopia 23, autosomal recessive
- p.Ala264Ser Single submitter ⚠
- p.Ala264Val Single submitter
- p.Ala267Thr Single submitter ⚠
- p.Ala92Ser Single submitter ⚠
- p.Ala92Thr Single submitter ⚠
- p.Arg113Cys Single submitter ⚠
- p.Arg239Cys Single submitter ⚠
- p.Arg239His Single submitter ⚠
- p.Arg278Gln Single submitter ⚠
- p.Arg353Gly Single submitter ⚠
- p.Arg353Trp Single submitter ⚠
- p.Asn116Asp Single submitter ⚠
- p.Asn187Ser Single submitter ⚠
- p.Asn202Asp Single submitter ⚠
- p.Asn202Lys Single submitter ⚠
- p.Asn268Ser Single submitter ⚠
- p.Asn268Thr Single submitter ⚠
- p.Asp125Glu Single submitter ⚠
- p.Asp129Tyr Single submitter ⚠
- p.Glu108Lys Single submitter ⚠
- p.Glu167Lys Single submitter ⚠
- p.Glu168Asp Single submitter
- p.Glu197Lys Single submitter ⚠
- p.Glu249Asp Single submitter ⚠
- p.Gly126Val Single submitter ⚠
- p.Gly166Arg Single submitter ⚠
- p.His184Gln Single submitter ⚠
- p.His243Arg Single submitter ⚠
- p.His243Tyr Single submitter ⚠
- p.His354Asp Single submitter ⚠
- p.His80Gln Single submitter
- p.Ile231Val Single submitter ⚠
- p.Leu115Ile Single submitter ⚠
- p.Leu177Val Single submitter ⚠
- p.Leu357Phe Single submitter ⚠
- p.Leu96Val Single submitter ⚠
- p.Lys121Met Single submitter ⚠
- p.Lys213Thr Single submitter ⚠
- p.Phe252Leu Single submitter ⚠
- p.Ser207Thr Single submitter ⚠
- p.Ser230Arg Single submitter ⚠
- p.Ser230Gly Single submitter ⚠
- p.Ser247Asn Single submitter ⚠
- p.Ser346Cys Single submitter ⚠
- p.Thr192Ile Single submitter ⚠
- p.Thr222Met Single submitter ⚠
- p.Thr222Pro Single submitter ⚠
- p.Thr270Met Single submitter ⚠
- p.Val203Ile Single submitter ⚠
- p.Asn116Ser No assertion criteria prostate cancer ⚠