PTDSS2 — 57 ClinVar variants
All ClinVar germline PTDSS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
2 Likely benign · 55 Uncertain significance
Full PTDSS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTDSS2 p.Gln454Arg Uncertain significance Multiple submitters
- PTDSS2 p.Ala20Thr Uncertain significance Single submitter
- PTDSS2 p.Ala20Val Uncertain significance Single submitter
- PTDSS2 p.Ala37Thr Uncertain significance Single submitter
- PTDSS2 p.Arg313Ser Uncertain significance Single submitter
- PTDSS2 p.Arg430His Uncertain significance Single submitter
- PTDSS2 p.Arg444Gln Uncertain significance Single submitter
- PTDSS2 p.Arg62Gln Uncertain significance Single submitter
- PTDSS2 p.Asn460Lys Uncertain significance Single submitter
- PTDSS2 p.Asp400His Uncertain significance Single submitter
- PTDSS2 p.Asp452Asn Uncertain significance Single submitter
- PTDSS2 p.Glu182Asp Uncertain significance Single submitter
- PTDSS2 p.Glu470Lys Uncertain significance Single submitter
- PTDSS2 p.Gly31Arg Uncertain significance Single submitter
- PTDSS2 p.Gly31Glu Uncertain significance Single submitter
- PTDSS2 p.Gly461Arg Uncertain significance Single submitter
- PTDSS2 p.Gly474Ala Uncertain significance Single submitter
- PTDSS2 p.Gly480Ser Uncertain significance Single submitter
- PTDSS2 p.Leu102Phe Uncertain significance Single submitter
- PTDSS2 p.Leu129Phe Uncertain significance Single submitter
- PTDSS2 p.Leu315Pro Uncertain significance Single submitter
- PTDSS2 p.Phe144Leu Uncertain significance Single submitter
- PTDSS2 p.Phe336Ile Uncertain significance Single submitter
- PTDSS2 p.Phe336Leu Uncertain significance Single submitter
- PTDSS2 p.Phe354Tyr Uncertain significance Single submitter
- PTDSS2 p.Pro12Arg Uncertain significance Single submitter
- PTDSS2 p.Pro282Leu Uncertain significance Single submitter
- PTDSS2 p.Pro297Leu Uncertain significance Single submitter
- PTDSS2 p.Pro342Arg Uncertain significance Single submitter
- PTDSS2 p.Pro342Leu Uncertain significance Single submitter
- PTDSS2 p.Thr403Met Uncertain significance Single submitter
- PTDSS2 p.Thr485Ile Uncertain significance Single submitter
- PTDSS2 p.Thr80Met Uncertain significance Single submitter
- PTDSS2 p.Val222Met Uncertain significance Single submitter
- PTDSS2 p.Val352Ile Uncertain significance Single submitter
- PTDSS2 p.Val428Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- PTDSS2 p.Arg434Trp Uncertain significance Single submitter
- PTDSS2 p.Arg6Cys Uncertain significance Single submitter
- PTDSS2 p.Ile247Phe Uncertain significance Single submitter
- PTDSS2 p.Phe186Leu Uncertain significance Single submitter
- PTDSS2 p.Phe324Tyr Uncertain significance Single submitter
- PTDSS2 p.Pro164Ser Uncertain significance Single submitter
- PTDSS2 p.Pro179Leu Uncertain significance Single submitter
- PTDSS2 p.Ser132Gly Uncertain significance Single submitter
- PTDSS2 p.Ser16Phe Uncertain significance Single submitter
- PTDSS2 p.Tyr411Cys Uncertain significance Single submitter
- PTDSS2 p.Val131Met Uncertain significance Single submitter
- PTDSS2 p.Val357Met Uncertain significance Single submitter
- PTDSS2 p.Val360Met Uncertain significance Single submitter
- PTDSS2 p.Val51Ala Uncertain significance Single submitter
All PTDSS2 variants
Likely benign 2
- p.Asp435= Single submitter
- p.Leu202Ile Single submitter
Uncertain significance 55
- p.Gln454Arg Multiple submitters ⚠
- p.Ala199Thr Single submitter
- p.Ala20Thr Single submitter ⚠
- p.Ala20Val Single submitter ⚠
- p.Ala37Thr Single submitter ⚠
- p.Arg313Ser Single submitter ⚠
- p.Arg430His Single submitter ⚠
- p.Arg434Trp Single submitter ⚠
- p.Arg444Gln Single submitter ⚠
- p.Arg62Gln Single submitter ⚠
- p.Arg6Cys Single submitter ⚠
- p.Asn460Lys Single submitter ⚠
- p.Asp178Val Single submitter
- p.Asp400His Single submitter ⚠
- p.Asp452Asn Single submitter ⚠
- p.Glu182Asp Single submitter ⚠
- p.Glu470Lys Single submitter ⚠
- p.Gly31Arg Single submitter ⚠
- p.Gly31Glu Single submitter ⚠
- p.Gly461Arg Single submitter ⚠
- p.Gly474Ala Single submitter ⚠
- p.Gly480Ser Single submitter ⚠
- p.Ile247Phe Single submitter ⚠
- p.Leu102Phe Single submitter ⚠
- p.Leu129Phe Single submitter ⚠
- p.Leu161Val Single submitter
- p.Leu315Pro Single submitter ⚠
- p.Leu334Val Single submitter
- p.Met248Val Single submitter
- p.Phe144Leu Single submitter ⚠
- p.Phe186Leu Single submitter ⚠
- p.Phe324Tyr Single submitter ⚠
- p.Phe336Ile Single submitter ⚠
- p.Phe336Leu Single submitter ⚠
- p.Phe354Tyr Single submitter ⚠
- p.Pro12Arg Single submitter ⚠
- p.Pro164Ser Single submitter ⚠
- p.Pro179Leu Single submitter ⚠
- p.Pro282Leu Single submitter ⚠
- p.Pro297Leu Single submitter ⚠
- p.Pro342Arg Single submitter ⚠
- p.Pro342Leu Single submitter ⚠
- p.Ser132Gly Single submitter ⚠
- p.Ser16Phe Single submitter ⚠
- p.Thr403Met Single submitter ⚠
- p.Thr485Ile Single submitter ⚠
- p.Thr80Met Single submitter ⚠
- p.Tyr411Cys Single submitter ⚠
- p.Val131Met Single submitter ⚠
- p.Val222Met Single submitter ⚠
- p.Val352Ile Single submitter ⚠
- p.Val357Met Single submitter ⚠
- p.Val360Met Single submitter ⚠
- p.Val428Ile Single submitter ⚠
- p.Val51Ala Single submitter ⚠