PSMC3IP — 64 ClinVar variants
All ClinVar germline PSMC3IP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
4 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 11 Benign · 12 Likely benign · 33 Uncertain significance
Full PSMC3IP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PSMC3IP p.Arg25Pro
Conflicting
Single submitter
PSMC3IP-related disorder
-
PSMC3IP p.Lys63Asn
Conflicting
Single submitter
ovarian dysgenesis 3
Predictors lean, ClinVar uncertain 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMC3IP p.Glu160Lys Uncertain significance Multiple submitters
- PSMC3IP p.Ala73Val Uncertain significance Single submitter
- PSMC3IP p.Ala98Val Uncertain significance Single submitter
- PSMC3IP p.Arg178Thr Uncertain significance Single submitter
- PSMC3IP p.Arg18Lys Uncertain significance Single submitter
- PSMC3IP p.Arg5Pro Uncertain significance Single submitter
- PSMC3IP p.Asp76Asn Uncertain significance Single submitter
- PSMC3IP p.Asp79Asn Uncertain significance Single submitter
- PSMC3IP p.Cys170Tyr Uncertain significance Single submitter
- PSMC3IP p.Gln127Glu Uncertain significance Single submitter
- PSMC3IP p.Gln161Glu Uncertain significance Single submitter
- PSMC3IP p.Gln77Arg Uncertain significance Single submitter
- PSMC3IP p.Glu129Gln Uncertain significance Single submitter
- PSMC3IP p.Glu142Gly Uncertain significance Single submitter
- PSMC3IP p.Glu158Asp Uncertain significance Single submitter
- PSMC3IP p.Gly203Glu Uncertain significance Single submitter
- PSMC3IP p.Leu114Val Uncertain significance Single submitter
- PSMC3IP p.Lys128Arg Uncertain significance Single submitter
- PSMC3IP p.Met110Thr Uncertain significance Single submitter
- PSMC3IP p.Met80Val Uncertain significance Single submitter
- PSMC3IP p.Ser102Arg Uncertain significance Single submitter
- PSMC3IP p.Thr151Asn Uncertain significance Single submitter
- PSMC3IP p.Thr206Met Uncertain significance Single submitter
- PSMC3IP p.Val202Leu Uncertain significance Single submitter
- PSMC3IP p.Val212Phe Uncertain significance Single submitter
- PSMC3IP p.Val88Leu Uncertain significance Single submitter
- PSMC3IP p.Val94Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
- PSMC3IP p.Arg108Pro Uncertain significance Single submitter
- PSMC3IP p.Gly34Arg Uncertain significance Single submitter
- PSMC3IP p.Ile93Met Uncertain significance Single submitter
- PSMC3IP p.Lys196Gln Uncertain significance Single submitter
-
PSMC3IP p.Phe72Ser
Pathogenic
No assertion criteria
ovarian dysgenesis 3
All PSMC3IP variants
Pathogenic 4
- p.Glu205fs Single submitter ovarian dysgenesis 3
- c.597+1G-T No assertion criteria ovarian dysgenesis 3
- c.600_602del No assertion criteria ovarian dysgenesis 3
- p.Phe72Ser No assertion criteria ovarian dysgenesis 3 ⚠
Likely pathogenic 2
- p.Gln104Ter Single submitter 46 XX gonadal dysgenesis
- p.Lys69del Single submitter ovarian dysgenesis 3
Conflicting classifications of pathogenicity 2
- p.Arg25Pro Single submitter PSMC3IP-related disorder ⚠
- p.Lys63Asn Single submitter ovarian dysgenesis 3 ⚠
Benign 11
- c.136-10C>T Multiple submitters
- c.225+79G>A Multiple submitters
- c.337+88C>T Multiple submitters
- c.338-147T>C Multiple submitters
- c.338-158G>A Multiple submitters
- c.338-15C>G Multiple submitters ovarian dysgenesis 3
- c.*9C>T Multiple submitters
- p.Ser82= Multiple submitters
- p.Tyr163Asn Multiple submitters
- c.136-38_136-37del Single submitter
- p.Leu121= Single submitter
Likely benign 12
- c.225+89C>T Multiple submitters
- p.Arg108His Multiple submitters
- c.136-7C>T Single submitter
- c.225+9A>C Single submitter
- c.537+15G>A Single submitter
- c.597+19_597+22del Single submitter
- c.-37A>T Single submitter
- p.Asp216Asn Single submitter
- p.Gln23= Single submitter
- p.Glu136= Single submitter
- p.Tyr65= Single submitter
- p.Cys137= No assertion criteria PSMC3IP-related disorder
Uncertain significance 33
- p.Glu160Lys Multiple submitters ⚠
- c.-35C>T Single submitter ovarian dysgenesis 3
- p.Ala73Val Single submitter ⚠
- p.Ala98Val Single submitter ⚠
- p.Arg108Pro Single submitter ⚠
- p.Arg178Thr Single submitter ⚠
- p.Arg18Lys Single submitter ⚠
- p.Arg5Pro Single submitter ⚠
- p.Asp76Asn Single submitter ⚠
- p.Asp79Asn Single submitter ⚠
- p.Cys170Tyr Single submitter ⚠
- p.Gln127Glu Single submitter ⚠
- p.Gln161Glu Single submitter ⚠
- p.Gln77Arg Single submitter ⚠
- p.Glu129Gln Single submitter ⚠
- p.Glu142Gly Single submitter ⚠
- p.Glu158Asp Single submitter ⚠
- p.Gly203Glu Single submitter ⚠
- p.Gly34Arg Single submitter ⚠
- p.Ile93Met Single submitter ⚠
- p.Leu114Val Single submitter ⚠
- p.Lys128Arg Single submitter ⚠
- p.Lys196Gln Single submitter ⚠
- p.Met110Thr Single submitter ⚠
- p.Met80Val Single submitter ⚠
- p.Ser102Arg Single submitter ⚠
- p.Thr151Asn Single submitter ⚠
- p.Thr206Met Single submitter ⚠
- p.Tyr65Cys Single submitter
- p.Val202Leu Single submitter ⚠
- p.Val212Phe Single submitter ⚠
- p.Val88Leu Single submitter ⚠
- p.Val94Met Single submitter ⚠