PSMC3 — 59 ClinVar variants
All ClinVar germline PSMC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
10 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 10 Likely benign · 36 Uncertain significance
Full PSMC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PSMC3 p.Arg238Trp
Conflicting
Single submitter
PSMC3-related disorders
Predictors lean, ClinVar uncertain 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PSMC3 p.Ala18Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PSMC3 p.Arg180Lys Uncertain significance Single submitter
- PSMC3 p.Arg347His Uncertain significance Single submitter
-
PSMC3 p.Asn358Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMC3 p.Asn434Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMC3 p.Asp141Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMC3 p.Asp390Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PSMC3 p.Gln367Arg Uncertain significance Single submitter
- PSMC3 p.Glu32Gly Uncertain significance Single submitter
- PSMC3 p.Glu402Gln Uncertain significance Single submitter
-
PSMC3 p.His369Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- PSMC3 p.His64Tyr Uncertain significance Single submitter
-
PSMC3 p.Ile111Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMC3 p.Ile285Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PSMC3 p.Ile291Met Uncertain significance Single submitter
- PSMC3 p.Leu274Pro Uncertain significance Single submitter
-
PSMC3 p.Leu311Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PSMC3 p.Met175Val Uncertain significance Single submitter
- PSMC3 p.Pro220Thr Uncertain significance Single submitter
- PSMC3 p.Pro229Ala Uncertain significance Single submitter
-
PSMC3 p.Ser170Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PSMC3 p.Ser186Asn Uncertain significance Single submitter
-
PSMC3 p.Ser77Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMC3 p.Thr244Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMC3 p.Val140Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 7
The independent predictors disagree with each other — read with care.
- PSMC3 p.Lys276Glu Uncertain significance Multiple submitters
-
PSMC3 p.Ala242Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PSMC3 p.Ala252Val Uncertain significance Single submitter
- PSMC3 p.Glu383Ala Uncertain significance Single submitter
-
PSMC3 p.Gly30Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PSMC3 p.Thr38Met Uncertain significance Single submitter
-
PSMC3 p.Ala237Val
Pathogenic
No assertion criteria
Ebstein-Bezieau neurodevelopmental syndrome
All PSMC3 variants
Pathogenic 10
- p.Ile261Thr Multiple submitters Inborn genetic diseases
- p.Arg304Gly Single submitter PSMC3-Related Neurodevelopmental Delay
- p.Arg304Trp Single submitter patent ductus arteriosus
- p.Met259Ile Single submitter neurodevelopmental disorder
- c.1127+337A>G No assertion criteria deafness, cataract, impaired intellectual development, and polyneuropathy
- p.Ala237Val No assertion criteria Ebstein-Bezieau neurodevelopmental syndrome ⚠
- p.Glu305Asp No assertion criteria Ebstein-Bezieau neurodevelopmental syndrome
- p.Glu383Lys No assertion criteria Ebstein-Bezieau neurodevelopmental syndrome
- p.Gly262Arg No assertion criteria Ebstein-Bezieau neurodevelopmental syndrome
- p.Met259Val No assertion criteria Ebstein-Bezieau neurodevelopmental syndrome
Likely pathogenic 2
- p.Lys155Arg Single submitter neurodevelopmental disorder
- p.Met310Thr Single submitter Inborn genetic diseases
Conflicting classifications of pathogenicity 1
- p.Arg238Trp Single submitter PSMC3-related disorders ⚠
Likely benign 10
- p.His417= Multiple submitters Inborn genetic diseases
- c.884+9G>A Single submitter
- p.Ala241= Single submitter
- p.Asn92= Single submitter
- p.Asp378= Single submitter
- p.Leu198= Single submitter Inborn genetic diseases
- p.Leu338= Single submitter
- p.Pro355= Single submitter
- p.Thr131= Single submitter
- p.Thr182= Single submitter
Uncertain significance 36
- p.Lys276Glu Multiple submitters ⚠
- c.390+2T>A Single submitter
- c.735+1G>A Single submitter Inborn genetic diseases
- p.Ala18Val Single submitter Inborn genetic diseases ⚠
- p.Ala242Thr Single submitter Inborn genetic diseases ⚠
- p.Ala252Val Single submitter ⚠
- p.Arg180Lys Single submitter ⚠
- p.Arg347His Single submitter ⚠
- p.Asn358Ser Single submitter Inborn genetic diseases ⚠
- p.Asn434Ser Single submitter Inborn genetic diseases ⚠
- p.Asp141Val Single submitter Inborn genetic diseases ⚠
- p.Asp390Ala Single submitter Inborn genetic diseases ⚠
- p.Asp390del Single submitter
- p.Gln367Arg Single submitter ⚠
- p.Glu32Gly Single submitter ⚠
- p.Glu383Ala Single submitter ⚠
- p.Glu402Gln Single submitter ⚠
- p.Glu51del Single submitter
- p.Gly30Arg Single submitter Inborn genetic diseases ⚠
- p.His369Tyr Single submitter Inborn genetic diseases ⚠
- p.His64Tyr Single submitter ⚠
- p.Ile111Val Single submitter Inborn genetic diseases ⚠
- p.Ile285Thr Single submitter Inborn genetic diseases ⚠
- p.Ile291Met Single submitter ⚠
- p.Leu274Pro Single submitter ⚠
- p.Leu311Gln Single submitter Inborn genetic diseases ⚠
- p.Met175Val Single submitter ⚠
- p.Pro220Thr Single submitter ⚠
- p.Pro229Ala Single submitter ⚠
- p.Ser170Leu Single submitter Inborn genetic diseases ⚠
- p.Ser186Asn Single submitter ⚠
- p.Ser77Asn Single submitter Inborn genetic diseases ⚠
- p.Thr244Ile Single submitter Inborn genetic diseases ⚠
- p.Thr38Met Single submitter ⚠
- p.Val140Ala Single submitter Inborn genetic diseases ⚠
- p.Val199Met Single submitter Inborn genetic diseases