PDS5A — 95 ClinVar variants
All ClinVar germline PDS5A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
3 Likely benign · 92 Uncertain significance
Full PDS5A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDS5A p.Ala1048Asp Uncertain significance Single submitter
- PDS5A p.Ala1299Thr Uncertain significance Single submitter
- PDS5A p.Arg1235Gln Uncertain significance Single submitter
- PDS5A p.Arg299Gln Uncertain significance Single submitter
- PDS5A p.Arg513Gln Uncertain significance Single submitter
- PDS5A p.Arg570Gln Uncertain significance Single submitter
- PDS5A p.Arg763Lys Uncertain significance Single submitter
- PDS5A p.Arg887His Uncertain significance Single submitter
- PDS5A p.Asn1087Ser Uncertain significance Single submitter
- PDS5A p.Asn1094Ser Uncertain significance Single submitter
- PDS5A p.Asn1218Lys Uncertain significance Single submitter
- PDS5A p.Asn1289Ser Uncertain significance Single submitter
- PDS5A p.Asn477Tyr Uncertain significance Single submitter
- PDS5A p.Asn83Ser Uncertain significance Single submitter
- PDS5A p.Asp1286Glu Uncertain significance Single submitter
- PDS5A p.Cys1084Tyr Uncertain significance Single submitter
- PDS5A p.Cys532Ser Uncertain significance Single submitter
- PDS5A p.Gln223Pro Uncertain significance Single submitter
- PDS5A p.Gln853His Uncertain significance Single submitter
- PDS5A p.Glu1277Gln Uncertain significance Single submitter
- PDS5A p.Glu1310Lys Uncertain significance Single submitter
- PDS5A p.Glu162Asp Uncertain significance Single submitter
- PDS5A p.Glu826Asp Uncertain significance Single submitter
- PDS5A p.Gly1229Asp Uncertain significance Single submitter
- PDS5A p.Ile1027Leu Uncertain significance Single submitter
- PDS5A p.Ile1205Thr Uncertain significance Single submitter
- PDS5A p.Ile239Val Uncertain significance Single submitter
- PDS5A p.Ile468Val Uncertain significance Single submitter
- PDS5A p.Ile542Val Uncertain significance Single submitter
- PDS5A p.Ile839Val Uncertain significance Single submitter
- PDS5A p.Lys1058Arg Uncertain significance Single submitter
- PDS5A p.Lys984Arg Uncertain significance Single submitter
- PDS5A p.Met785Val Uncertain significance Single submitter
- PDS5A p.Met795Val Uncertain significance Single submitter
- PDS5A p.Pro1098Ala Uncertain significance Single submitter
-
PDS5A p.Pro1111Ser
Uncertain significance
Single submitter
autism spectrum disorder
- PDS5A p.Pro1135Leu Uncertain significance Single submitter
- PDS5A p.Pro1155Ala Uncertain significance Single submitter
- PDS5A p.Pro1268Ser Uncertain significance Single submitter
- PDS5A p.Pro1291His Uncertain significance Single submitter
- PDS5A p.Pro1317Ser Uncertain significance Single submitter
- PDS5A p.Pro549Ser Uncertain significance Single submitter
- PDS5A p.Ser109Cys Uncertain significance Single submitter
- PDS5A p.Ser1276Cys Uncertain significance Single submitter
- PDS5A p.Ser1305Ile Uncertain significance Single submitter
- PDS5A p.Ser343Arg Uncertain significance Single submitter
- PDS5A p.Ser764Asn Uncertain significance Single submitter
- PDS5A p.Ser881Gly Uncertain significance Single submitter
- PDS5A p.Ser883Cys Uncertain significance Single submitter
- PDS5A p.Thr11Ile Uncertain significance Single submitter
- PDS5A p.Thr1253Arg Uncertain significance Single submitter
- PDS5A p.Thr580Ala Uncertain significance Single submitter
- PDS5A p.Trp445Arg Uncertain significance Single submitter
- PDS5A p.Val1021Ile Uncertain significance Single submitter
- PDS5A p.Val1078Ile Uncertain significance Single submitter
- PDS5A p.Val1144Ile Uncertain significance Single submitter
- PDS5A p.Val1170Gly Uncertain significance Single submitter
- PDS5A p.Val17Ala Uncertain significance Single submitter
- PDS5A p.Val17Met Uncertain significance Single submitter
- PDS5A p.Val201Ile Uncertain significance Single submitter
- PDS5A p.Val258Ile Uncertain significance Single submitter
- PDS5A p.Val665Ile Uncertain significance Single submitter
- PDS5A p.Val832Ile Uncertain significance Single submitter
- PDS5A p.Val941Leu Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- PDS5A p.Ala787Val Uncertain significance Single submitter
- PDS5A p.Arg1272His Uncertain significance Single submitter
- PDS5A p.Arg255Thr Uncertain significance Single submitter
- PDS5A p.Asp825Asn Uncertain significance Single submitter
- PDS5A p.Cys904Tyr Uncertain significance Single submitter
- PDS5A p.Gly1142Asp Uncertain significance Single submitter
- PDS5A p.His336Tyr Uncertain significance Single submitter
- PDS5A p.His937Tyr Uncertain significance Single submitter
- PDS5A p.His967Gln Uncertain significance Single submitter
- PDS5A p.Ile153Val Uncertain significance Single submitter
- PDS5A p.Ile774Lys Uncertain significance Single submitter
- PDS5A p.Ile97Thr Uncertain significance Single submitter
- PDS5A p.Met284Ile Uncertain significance Single submitter
- PDS5A p.Met610Val Uncertain significance Single submitter
- PDS5A p.Met885Thr Uncertain significance Single submitter
- PDS5A p.Phe1107Leu Uncertain significance Single submitter
- PDS5A p.Phe1107Ser Uncertain significance Single submitter
- PDS5A p.Thr407Ile Uncertain significance Single submitter
- PDS5A p.Val302Ala Uncertain significance Single submitter
- PDS5A p.Val516Ala Uncertain significance Single submitter
All PDS5A variants
Likely benign 3
- p.Leu231= Single submitter
- p.Thr1162Ala Single submitter
- c.2153+1G>A No assertion criteria Neurodevelopmental abnormality
Uncertain significance 92
- c.654+5G>C Single submitter PDS5A-related disorder
- p.Ala1048Asp Single submitter ⚠
- p.Ala1299Thr Single submitter ⚠
- p.Ala630Val Single submitter
- p.Ala787Val Single submitter ⚠
- p.Arg1235Gln Single submitter ⚠
- p.Arg1272His Single submitter ⚠
- p.Arg255Thr Single submitter ⚠
- p.Arg299Gln Single submitter ⚠
- p.Arg513Gln Single submitter ⚠
- p.Arg570Gln Single submitter ⚠
- p.Arg717Ter Single submitter
- p.Arg763Lys Single submitter ⚠
- p.Arg887His Single submitter ⚠
- p.Asn1087Ser Single submitter ⚠
- p.Asn1094Ser Single submitter ⚠
- p.Asn1218Lys Single submitter ⚠
- p.Asn1289Ser Single submitter ⚠
- p.Asn477Tyr Single submitter ⚠
- p.Asn83Ser Single submitter ⚠
- p.Asp1286Glu Single submitter ⚠
- p.Asp825Asn Single submitter ⚠
- p.Cys1084Tyr Single submitter ⚠
- p.Cys532Ser Single submitter ⚠
- p.Cys904Tyr Single submitter ⚠
- p.Gln223Pro Single submitter ⚠
- p.Gln853His Single submitter ⚠
- p.Gln853Ter Single submitter
- p.Glu1277Gln Single submitter ⚠
- p.Glu1310Lys Single submitter ⚠
- p.Glu162Asp Single submitter ⚠
- p.Glu759Ter Single submitter PDS5A-related disorder
- p.Glu826Asp Single submitter ⚠
- p.Gly1142Asp Single submitter ⚠
- p.Gly1229Asp Single submitter ⚠
- p.His336Tyr Single submitter ⚠
- p.His937Tyr Single submitter ⚠
- p.His967Gln Single submitter ⚠
- p.Ile1027Leu Single submitter ⚠
- p.Ile1205Thr Single submitter ⚠
- p.Ile153Val Single submitter ⚠
- p.Ile239Val Single submitter ⚠
- p.Ile468Val Single submitter ⚠
- p.Ile542Val Single submitter ⚠
- p.Ile639Leu Single submitter
- p.Ile774Lys Single submitter ⚠
- p.Ile839Val Single submitter ⚠
- p.Ile97Thr Single submitter ⚠
- p.Leu1083Arg Single submitter
- p.Leu341Ter Single submitter
- p.Lys1058Arg Single submitter ⚠
- p.Lys984Arg Single submitter ⚠
- p.Met284Ile Single submitter ⚠
- p.Met610Val Single submitter ⚠
- p.Met785Val Single submitter ⚠
- p.Met795Val Single submitter ⚠
- p.Met885Thr Single submitter ⚠
- p.Phe1107Leu Single submitter ⚠
- p.Phe1107Ser Single submitter ⚠
- p.Pro1098Ala Single submitter ⚠
- p.Pro1111Ser Single submitter autism spectrum disorder ⚠
- p.Pro1135Leu Single submitter ⚠
- p.Pro1155Ala Single submitter ⚠
- p.Pro1268Ser Single submitter ⚠
- p.Pro1291His Single submitter ⚠
- p.Pro1317Ser Single submitter ⚠
- p.Pro549Ser Single submitter ⚠
- p.Ser109Cys Single submitter ⚠
- p.Ser1276Cys Single submitter ⚠
- p.Ser1305Ile Single submitter ⚠
- p.Ser343Arg Single submitter ⚠
- p.Ser764Asn Single submitter ⚠
- p.Ser881Gly Single submitter ⚠
- p.Ser883Cys Single submitter ⚠
- p.Thr11Ile Single submitter ⚠
- p.Thr1253Arg Single submitter ⚠
- p.Thr407Ile Single submitter ⚠
- p.Thr580Ala Single submitter ⚠
- p.Trp445Arg Single submitter ⚠
- p.Val1021Ile Single submitter ⚠
- p.Val1078Ile Single submitter ⚠
- p.Val1144Ile Single submitter ⚠
- p.Val1170Gly Single submitter ⚠
- p.Val17Ala Single submitter ⚠
- p.Val17Met Single submitter ⚠
- p.Val201Ile Single submitter ⚠
- p.Val258Ile Single submitter ⚠
- p.Val302Ala Single submitter ⚠
- p.Val516Ala Single submitter ⚠
- p.Val665Ile Single submitter ⚠
- p.Val832Ile Single submitter ⚠
- p.Val941Leu Single submitter ⚠