PSMD7 — 32 ClinVar variants
All ClinVar germline PSMD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Benign · 1 Likely benign · 30 Uncertain significance
Full PSMD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMD7 p.Ala137Ser Uncertain significance Single submitter
- PSMD7 p.Ala248Asp Uncertain significance Single submitter
- PSMD7 p.Ala5Thr Uncertain significance Single submitter
- PSMD7 p.Arg114Lys Uncertain significance Single submitter
- PSMD7 p.Arg190Gln Uncertain significance Single submitter
- PSMD7 p.Arg88Lys Uncertain significance Single submitter
- PSMD7 p.Asn24Thr Uncertain significance Single submitter
- PSMD7 p.Asp147Asn Uncertain significance Single submitter
- PSMD7 p.Asp207Glu Uncertain significance Single submitter
- PSMD7 p.Asp309Gly Uncertain significance Single submitter
- PSMD7 p.Glu110Lys Uncertain significance Single submitter
- PSMD7 p.Glu289Asp Uncertain significance Single submitter
- PSMD7 p.Glu305Gly Uncertain significance Single submitter
- PSMD7 p.Gly98Ser Uncertain significance Single submitter
- PSMD7 p.His196Arg Uncertain significance Single submitter
- PSMD7 p.Ile124Thr Uncertain significance Single submitter
- PSMD7 p.Ile222Val Uncertain significance Single submitter
- PSMD7 p.Leu206Arg Uncertain significance Single submitter
- PSMD7 p.Lys204Arg Uncertain significance Single submitter
- PSMD7 p.Lys45Asn Uncertain significance Single submitter
- PSMD7 p.Ser210Ile Uncertain significance Single submitter
- PSMD7 p.Ser296Asn Uncertain significance Single submitter
- PSMD7 p.Thr159Asn Uncertain significance Single submitter
- PSMD7 p.Val246Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All PSMD7 variants
Benign 1
- p.His72= Multiple submitters
Likely benign 1
- p.Ile26= Single submitter
Uncertain significance 30
- p.Ala137Ser Single submitter ⚠
- p.Ala167Ser Single submitter ⚠
- p.Ala248Asp Single submitter ⚠
- p.Ala5Thr Single submitter ⚠
- p.Arg114Lys Single submitter ⚠
- p.Arg190Gln Single submitter ⚠
- p.Arg88Lys Single submitter ⚠
- p.Asn193Tyr Single submitter ⚠
- p.Asn24Thr Single submitter ⚠
- p.Asp147Asn Single submitter ⚠
- p.Asp207Glu Single submitter ⚠
- p.Asp309Gly Single submitter ⚠
- p.Glu110Lys Single submitter ⚠
- p.Glu289Asp Single submitter ⚠
- p.Glu305Gly Single submitter ⚠
- p.Gly98Ser Single submitter ⚠
- p.His196Arg Single submitter ⚠
- p.Ile124Thr Single submitter ⚠
- p.Ile222Val Single submitter ⚠
- p.Leu201Met Single submitter
- p.Leu206Arg Single submitter ⚠
- p.Lys204Arg Single submitter ⚠
- p.Lys312Asn Single submitter ⚠
- p.Lys45Asn Single submitter ⚠
- p.Phe245Leu Single submitter ⚠
- p.Ser210Ile Single submitter ⚠
- p.Ser296Asn Single submitter ⚠
- p.Thr159Asn Single submitter ⚠
- p.Val195Phe Single submitter
- p.Val246Ile Single submitter ⚠