PCMT1 — 26 ClinVar variants
All ClinVar germline PCMT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Likely benign · 25 Uncertain significance
Full PCMT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PCMT1 p.Ala161Val Uncertain significance Single submitter
- PCMT1 p.Asn121Ser Uncertain significance Single submitter
- PCMT1 p.Asp154Gly Uncertain significance Single submitter
- PCMT1 p.Asp171Asn Uncertain significance Single submitter
- PCMT1 p.Met205Ile Uncertain significance Single submitter
- PCMT1 p.Ser9Asn Uncertain significance Single submitter
- PCMT1 p.Thr93Ile Uncertain significance Single submitter
- PCMT1 p.Val158Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- PCMT1 p.Asp74His Uncertain significance Single submitter
- PCMT1 p.Ile107Met Uncertain significance Single submitter
- PCMT1 p.Pro128Gln Uncertain significance Single submitter
- PCMT1 p.Thr103Pro Uncertain significance Single submitter
- PCMT1 p.Thr129Ile Uncertain significance Single submitter
- PCMT1 p.Val165Leu Uncertain significance Single submitter
All PCMT1 variants
Likely benign 1
- p.Tyr213= Single submitter
Uncertain significance 25
- c.-107C>T Single submitter
- c.-117A>G Single submitter
- c.-126G>T Single submitter
- c.-128G>A Single submitter
- c.-139C>A Single submitter
- c.-141G>T Single submitter
- c.-21C>G Single submitter
- c.-30G>T Single submitter
- c.-35A>C Single submitter
- c.-7C>G Single submitter
- c.-84G>C Single submitter
- p.Ala161Val Single submitter ⚠
- p.Asn121Ser Single submitter ⚠
- p.Asp154Gly Single submitter ⚠
- p.Asp171Asn Single submitter ⚠
- p.Asp74His Single submitter ⚠
- p.Ile107Met Single submitter ⚠
- p.Met205Ile Single submitter ⚠
- p.Pro128Gln Single submitter ⚠
- p.Ser9Asn Single submitter ⚠
- p.Thr103Pro Single submitter ⚠
- p.Thr129Ile Single submitter ⚠
- p.Thr93Ile Single submitter ⚠
- p.Val158Ala Single submitter ⚠
- p.Val165Leu Single submitter ⚠