PDE1A — 93 ClinVar variants
All ClinVar germline PDE1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
31 Benign · 5 Likely benign · 57 Uncertain significance
Full PDE1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDE1A p.Ala111Pro Uncertain significance Single submitter
- PDE1A p.Ala263Thr Uncertain significance Single submitter
- PDE1A p.Ala348Thr Uncertain significance Single submitter
- PDE1A p.Ala503Asp Uncertain significance Single submitter
- PDE1A p.Arg117Ser Uncertain significance Single submitter
- PDE1A p.Arg87Gln Uncertain significance Single submitter
- PDE1A p.Asn290Ile Uncertain significance Single submitter
- PDE1A p.Asp147Asn Uncertain significance Single submitter
- PDE1A p.Asp467Asn Uncertain significance Single submitter
- PDE1A p.Asp79Tyr Uncertain significance Single submitter
- PDE1A p.Gln23Glu Uncertain significance Single submitter
- PDE1A p.Glu435Lys Uncertain significance Single submitter
- PDE1A p.His247Tyr Uncertain significance Single submitter
- PDE1A p.Ile408Met Uncertain significance Single submitter
- PDE1A p.Ile447Thr Uncertain significance Single submitter
- PDE1A p.Leu191Val Uncertain significance Single submitter
- PDE1A p.Leu19Pro Uncertain significance Single submitter
- PDE1A p.Met225Leu Uncertain significance Single submitter
- PDE1A p.Met396Val Uncertain significance Single submitter
- PDE1A p.Met89Ile Uncertain significance Single submitter
- PDE1A p.Pro426Ser Uncertain significance Single submitter
- PDE1A p.Pro96Arg Uncertain significance Single submitter
- PDE1A p.Thr20Arg Uncertain significance Single submitter
- PDE1A p.Thr445Ala Uncertain significance Single submitter
- PDE1A p.Val136Ile Uncertain significance Single submitter
- PDE1A p.Val409Ala Uncertain significance Single submitter
- PDE1A p.Val46Met Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- PDE1A p.Ala431Asp Uncertain significance Single submitter
- PDE1A p.Arg176Cys Uncertain significance Single submitter
- PDE1A p.Arg269His Uncertain significance Single submitter
- PDE1A p.Arg282Gln Uncertain significance Single submitter
- PDE1A p.Arg363Gln Uncertain significance Single submitter
- PDE1A p.Arg78Gln Uncertain significance Single submitter
- PDE1A p.Arg87Trp Uncertain significance Single submitter
- PDE1A p.Asn328Asp Uncertain significance Single submitter
- PDE1A p.Asp406Asn Uncertain significance Single submitter
- PDE1A p.Asp63Asn Uncertain significance Single submitter
- PDE1A p.Asp71Tyr Uncertain significance Single submitter
- PDE1A p.Glu381Lys Uncertain significance Single submitter
- PDE1A p.His451Tyr Uncertain significance Single submitter
- PDE1A p.Ile206Met Uncertain significance Single submitter
- PDE1A p.Ile218Thr Uncertain significance Single submitter
- PDE1A p.Leu228Phe Uncertain significance Single submitter
- PDE1A p.Leu228Val Uncertain significance Single submitter
- PDE1A p.Lys393Glu Uncertain significance Single submitter
- PDE1A p.Lys485Gln Uncertain significance Single submitter
- PDE1A p.Met125Thr Uncertain significance Single submitter
- PDE1A p.Phe162Leu Uncertain significance Single submitter
- PDE1A p.Ser352Gly Uncertain significance Single submitter
- PDE1A p.Ser438Phe Uncertain significance Single submitter
- PDE1A p.Thr248Ala Uncertain significance Single submitter
- PDE1A p.Val34Ile Uncertain significance Single submitter
- PDE1A p.Val479Met Uncertain significance Single submitter
-
PDE1A p.Arg176His
Likely benign
No assertion criteria
PDE1A-related disorder
All PDE1A variants
Benign 31
- c.1004+24G>T Multiple submitters
- c.101+113C>T Multiple submitters
- c.1207+48G>C Multiple submitters
- c.1207+62A>T Multiple submitters
- c.1208-106T>C Multiple submitters
- c.1516+17841A>G Multiple submitters
- c.168-1739A>C Multiple submitters
- c.168-1806A>G Multiple submitters
- c.54-101T>C Multiple submitters
- c.675+60T>G Multiple submitters
- c.776+7C>T Multiple submitters
- c.777-119C>T Multiple submitters
- c.902+48T>A Multiple submitters
- c.902+87C>T Multiple submitters
- c.1004+32_1004+37dup Single submitter
- c.1004+33_1004+37dup Single submitter
- c.1004+35_1004+37dup Single submitter
- c.1004+36_1004+37dup Single submitter
- c.1004+37dup Single submitter
- c.1208-134A>G Single submitter
- c.1329-157G>C Single submitter
- c.1516+17417T>C Single submitter
- c.1516+17598del Single submitter
- c.167+202A>G Single submitter
- c.168-1408G>C Single submitter
- c.168-1978C>A Single submitter
- c.53+38808_53+38811del Single submitter
- c.534+233T>C Single submitter
- c.54-8dup Single submitter
- c.675+224_675+225insAG Single submitter
- c.675+225del Single submitter
Likely benign 5
- p.Ile452Val Single submitter
- p.Ser443= Single submitter
- c.168-1621T>G No assertion criteria PDE1A-related disorder
- p.Arg176His No assertion criteria PDE1A-related disorder ⚠
- p.Ile135= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 57
- p.Ala111Pro Single submitter ⚠
- p.Ala263Thr Single submitter ⚠
- p.Ala348Thr Single submitter ⚠
- p.Ala431Asp Single submitter ⚠
- p.Ala503Asp Single submitter ⚠
- p.Ala520Thr Single submitter
- p.Arg117Ser Single submitter ⚠
- p.Arg176Cys Single submitter ⚠
- p.Arg269His Single submitter ⚠
- p.Arg282Gln Single submitter ⚠
- p.Arg363Gln Single submitter ⚠
- p.Arg78Gln Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Arg87Trp Single submitter ⚠
- p.Asn290Ile Single submitter ⚠
- p.Asn328Asp Single submitter ⚠
- p.Asn519Ser Single submitter
- p.Asp147Asn Single submitter ⚠
- p.Asp406Asn Single submitter ⚠
- p.Asp467Asn Single submitter ⚠
- p.Asp63Asn Single submitter ⚠
- p.Asp71Tyr Single submitter ⚠
- p.Asp79Tyr Single submitter ⚠
- p.Gln23Glu Single submitter ⚠
- p.Glu381Lys Single submitter ⚠
- p.Glu435Lys Single submitter ⚠
- p.His247Tyr Single submitter ⚠
- p.His451Tyr Single submitter ⚠
- p.Ile206Met Single submitter ⚠
- p.Ile218Thr Single submitter ⚠
- p.Ile408Met Single submitter ⚠
- p.Ile447Thr Single submitter ⚠
- p.Leu191Val Single submitter ⚠
- p.Leu19Pro Single submitter ⚠
- p.Leu228Phe Single submitter ⚠
- p.Leu228Val Single submitter ⚠
- p.Lys393Glu Single submitter ⚠
- p.Lys485Gln Single submitter ⚠
- p.Lys523Asn Single submitter
- p.Met125Thr Single submitter ⚠
- p.Met225Leu Single submitter ⚠
- p.Met396Val Single submitter ⚠
- p.Met89Ile Single submitter ⚠
- p.Phe162Leu Single submitter ⚠
- p.Pro426Ser Single submitter ⚠
- p.Pro96Arg Single submitter ⚠
- p.Ser352Gly Single submitter ⚠
- p.Ser438Phe Single submitter ⚠
- p.Ser508Phe Single submitter
- p.Thr20Arg Single submitter ⚠
- p.Thr248Ala Single submitter ⚠
- p.Thr445Ala Single submitter ⚠
- p.Val136Ile Single submitter ⚠
- p.Val34Ile Single submitter ⚠
- p.Val409Ala Single submitter ⚠
- p.Val46Met Single submitter ⚠
- p.Val479Met Single submitter ⚠