PPTC7 — 21 ClinVar variants
All ClinVar germline PPTC7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
2 Likely pathogenic · 19 Uncertain significance
Full PPTC7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPTC7 p.Ala204Val Uncertain significance Single submitter
- PPTC7 p.Ala300Thr Uncertain significance Single submitter
- PPTC7 p.Asn280Ser Uncertain significance Single submitter
-
PPTC7 p.Gly157Arg
Uncertain significance
Single submitter
neurodevelopmental disorder
- PPTC7 p.Gly28Ser Uncertain significance Single submitter
- PPTC7 p.Gly35Val Uncertain significance Single submitter
- PPTC7 p.Ile116Thr Uncertain significance Single submitter
- PPTC7 p.Ile141Val Uncertain significance Single submitter
- PPTC7 p.Met229Leu Uncertain significance Single submitter
- PPTC7 p.Ser207Thr Uncertain significance Single submitter
- PPTC7 p.Ser248Asn Uncertain significance Single submitter
- PPTC7 p.Thr147Ser Uncertain significance Single submitter
- PPTC7 p.Thr153Ala Uncertain significance Single submitter
- PPTC7 p.Tyr265Cys Uncertain significance Single submitter
- PPTC7 p.Val197Ile Uncertain significance Single submitter
- PPTC7 p.Val294Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All PPTC7 variants
Likely pathogenic 2
- c.*57dup Single submitter Hypomyelinating leukodystrophy
- p.Asp158Asn Single submitter Hypomyelinating leukodystrophy
Uncertain significance 19
- p.Ala154Val Single submitter ⚠
- p.Ala204Val Single submitter ⚠
- p.Ala300Thr Single submitter ⚠
- p.Asn280Ser Single submitter ⚠
- p.Gly157Arg Single submitter neurodevelopmental disorder ⚠
- p.Gly167Asp Single submitter ⚠
- p.Gly28Ser Single submitter ⚠
- p.Gly35Val Single submitter ⚠
- p.Ile116Thr Single submitter ⚠
- p.Ile141Val Single submitter ⚠
- p.Met229Leu Single submitter ⚠
- p.Ser207Thr Single submitter ⚠
- p.Ser248Asn Single submitter ⚠
- p.Thr147Ser Single submitter ⚠
- p.Thr153Ala Single submitter ⚠
- p.Tyr265Cys Single submitter ⚠
- p.Tyr86Cys Single submitter ⚠
- p.Val197Ile Single submitter ⚠
- p.Val294Ile Single submitter ⚠