POF1B — 125 ClinVar variants
All ClinVar germline POF1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
3 Conflicting · 27 Benign · 2 Benign/Likely benign · 14 Likely benign · 79 Uncertain significance
Full POF1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
POF1B p.Arg329Gln
Conflicting
Single submitter
premature menopause
- POF1B p.Glu470Gln Conflicting Single submitter
-
POF1B p.His29Asn
Conflicting
Single submitter
premature ovarian failure 2B
Predictors lean, ClinVar uncertain 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- POF1B p.Ala107Val Uncertain significance Single submitter
- POF1B p.Ala451Asp Uncertain significance Single submitter
- POF1B p.Arg266His Uncertain significance Single submitter
- POF1B p.Arg427Cys Uncertain significance Single submitter
- POF1B p.Arg427His Uncertain significance Single submitter
- POF1B p.Arg437Lys Uncertain significance Single submitter
- POF1B p.Arg51Gln Uncertain significance Single submitter
- POF1B p.Asn347Ile Uncertain significance Single submitter
- POF1B p.Asn536Ser Uncertain significance Single submitter
- POF1B p.Asp263Tyr Uncertain significance Single submitter
- POF1B p.Asp325Gly Uncertain significance Single submitter
- POF1B p.Cys188Phe Uncertain significance Single submitter
- POF1B p.Gln185Arg Uncertain significance Single submitter
- POF1B p.Gln18Arg Uncertain significance Single submitter
- POF1B p.Gln205Pro Uncertain significance Single submitter
-
POF1B p.Gln450Lys
Uncertain significance
Single submitter
premature ovarian failure 2B
- POF1B p.Glu374Lys Uncertain significance Single submitter
- POF1B p.Glu573Lys Uncertain significance Single submitter
- POF1B p.Gly15Val Uncertain significance Single submitter
- POF1B p.Gly571Ser Uncertain significance Single submitter
- POF1B p.His157Arg Uncertain significance Single submitter
- POF1B p.His189Gln Uncertain significance Single submitter
- POF1B p.His29Pro Uncertain significance Single submitter
- POF1B p.His410Leu Uncertain significance Single submitter
- POF1B p.Ile113Val Uncertain significance Single submitter
- POF1B p.Ile298Thr Uncertain significance Single submitter
- POF1B p.Ile577Thr Uncertain significance Single submitter
- POF1B p.Leu328Val Uncertain significance Single submitter
- POF1B p.Met438Val Uncertain significance Single submitter
- POF1B p.Met469Val Uncertain significance Single submitter
- POF1B p.Phe289Leu Uncertain significance Single submitter
- POF1B p.Pro184Leu Uncertain significance Single submitter
- POF1B p.Pro249Ser Uncertain significance Single submitter
- POF1B p.Pro569Leu Uncertain significance Single submitter
- POF1B p.Pro569Thr Uncertain significance Single submitter
- POF1B p.Pro570Ser Uncertain significance Single submitter
- POF1B p.Ser13Asn Uncertain significance Single submitter
- POF1B p.Ser295Leu Uncertain significance Single submitter
- POF1B p.Ser407Cys Uncertain significance Single submitter
- POF1B p.Ser533Pro Uncertain significance Single submitter
- POF1B p.Ser572Thr Uncertain significance Single submitter
- POF1B p.Thr100Ile Uncertain significance Single submitter
- POF1B p.Thr217Ile Uncertain significance Single submitter
- POF1B p.Thr269Lys Uncertain significance Single submitter
- POF1B p.Thr269Met Uncertain significance Single submitter
- POF1B p.Thr540Ile Uncertain significance Single submitter
- POF1B p.Thr9Met Uncertain significance Single submitter
-
POF1B p.Tyr532Cys
Uncertain significance
Single submitter
premature ovarian failure 2B
- POF1B p.Tyr562Cys Uncertain significance Single submitter
- POF1B p.Val62Met Uncertain significance Single submitter
-
POF1B p.Val74Leu
Uncertain significance
Single submitter
premature ovarian failure 2B
- POF1B p.Val88Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
-
POF1B p.Met320Ile
Uncertain significance
Multiple submitters
premature ovarian failure 2B
- POF1B p.Arg315His Uncertain significance Single submitter
- POF1B p.Arg528Trp Uncertain significance Single submitter
- POF1B p.Gly305Arg Uncertain significance Single submitter
- POF1B p.Gly457Asp Uncertain significance Single submitter
- POF1B p.His122Asp Uncertain significance Single submitter
- POF1B p.Ile170Thr Uncertain significance Single submitter
- POF1B p.Ile577Asn Uncertain significance Single submitter
- POF1B p.Phe335Leu Uncertain significance Single submitter
- POF1B p.Tyr373Cys Uncertain significance Single submitter
- POF1B p.Val48Gly Uncertain significance Single submitter
All POF1B variants
Conflicting classifications of pathogenicity 3
- p.Arg329Gln Single submitter premature menopause ⚠
- p.Glu470Gln Single submitter ⚠
- p.His29Asn Single submitter premature ovarian failure 2B ⚠
Benign 27
- c.1566+10G>A Multiple submitters premature ovarian failure 2B
- c.1764+3A>G Multiple submitters premature ovarian failure 2B
- c.*1019C>A Multiple submitters premature ovarian failure 2B
- c.*268T>G Multiple submitters premature ovarian failure 2B
- c.*312A>C Multiple submitters premature ovarian failure 2B
- c.*313C>T Multiple submitters premature ovarian failure 2B
- c.*368G>T Multiple submitters premature ovarian failure 2B
- c.*44T>G Multiple submitters premature ovarian failure 2B
- c.*669T>C Multiple submitters premature ovarian failure 2B
- p.Asn458= Multiple submitters premature ovarian failure 2B
- p.Cys239Ser Multiple submitters premature ovarian failure 2B
- p.Gln214Arg Multiple submitters premature ovarian failure 2B
- p.Gly457= Multiple submitters premature ovarian failure 2B
- p.Leu524= Multiple submitters premature ovarian failure 2B
- p.Met349Leu Multiple submitters premature ovarian failure 2B
- p.Pro207Ser Multiple submitters premature ovarian failure 2B
- c.1765-10del Single submitter
- c.-61C>T Single submitter premature ovarian failure 2B
- c.*1380T>G Single submitter premature ovarian failure 2B
- c.*1431A>C Single submitter
- c.*1626G>A Single submitter
- c.*1849G>A Single submitter
- c.*352A>G Single submitter premature ovarian failure 2B
- c.*755G>A Single submitter premature ovarian failure 2B
- c.*775G>T Single submitter premature ovarian failure 2B
- p.Arg315Cys Single submitter
- p.Leu509= Single submitter
Benign/Likely benign 2
- p.Gln38Pro Multiple submitters premature ovarian failure 2B
- p.Thr461= Multiple submitters premature ovarian failure 2B
Likely benign 14
- c.*42T>G Multiple submitters premature ovarian failure 2B
- p.Ser295= Multiple submitters
- c.357+12T>C Single submitter
- c.*686C>G Single submitter premature ovarian failure 2B
- p.Asn220= Single submitter
- p.Gln388Lys Single submitter
- p.Gln434Lys Single submitter premature ovarian failure 2B
- p.Ser37= Single submitter
- p.Ser533= Single submitter
- p.Thr105= Single submitter
- p.Thr548= Single submitter premature ovarian failure 2B
- p.Gln28= No assertion criteria POF1B-related disorder
- p.Leu561= No assertion criteria POF1B-related disorder
- p.Ser150= No assertion criteria POF1B-related disorder
Uncertain significance 79
- p.Arg468= Multiple submitters premature ovarian failure 2B
- p.Met320Ile Multiple submitters premature ovarian failure 2B ⚠
- c.1317+3A>T Single submitter
- c.957+2T>A Single submitter premature ovarian failure 2B
- c.*1112G>A Single submitter premature ovarian failure 2B
- c.*1113T>G Single submitter premature ovarian failure 2B
- c.*132T>C Single submitter premature ovarian failure 2B
- c.*1686G>T Single submitter premature ovarian failure 2B
- c.*1744A>G Single submitter premature ovarian failure 2B
- c.*484C>T Single submitter premature ovarian failure 2B
- c.*584A>C Single submitter premature ovarian failure 2B
- c.*635T>C Single submitter premature ovarian failure 2B
- c.*780G>A Single submitter premature ovarian failure 2B
- c.*835C>T Single submitter premature ovarian failure 2B
- c.*837T>G Single submitter premature ovarian failure 2B
- p.Ala107Val Single submitter ⚠
- p.Ala451Asp Single submitter ⚠
- p.Arg266His Single submitter ⚠
- p.Arg315His Single submitter ⚠
- p.Arg427Cys Single submitter ⚠
- p.Arg427His Single submitter ⚠
- p.Arg437Lys Single submitter ⚠
- p.Arg51Gln Single submitter ⚠
- p.Arg528Trp Single submitter ⚠
- p.Asn347Ile Single submitter ⚠
- p.Asn536Ser Single submitter ⚠
- p.Asp263Tyr Single submitter ⚠
- p.Asp325Gly Single submitter ⚠
- p.Cys188Phe Single submitter ⚠
- p.Gln185Arg Single submitter ⚠
- p.Gln18Arg Single submitter ⚠
- p.Gln205Pro Single submitter ⚠
- p.Gln26Ter Single submitter POF1B-related disorder
- p.Gln450Lys Single submitter premature ovarian failure 2B ⚠
- p.Glu374Lys Single submitter ⚠
- p.Glu573Lys Single submitter ⚠
- p.Gly15Val Single submitter ⚠
- p.Gly305Arg Single submitter ⚠
- p.Gly457Asp Single submitter ⚠
- p.Gly571Ser Single submitter ⚠
- p.His122Asp Single submitter ⚠
- p.His157Arg Single submitter ⚠
- p.His189Gln Single submitter ⚠
- p.His29Pro Single submitter ⚠
- p.His410Leu Single submitter ⚠
- p.Ile113Val Single submitter ⚠
- p.Ile170Thr Single submitter ⚠
- p.Ile298Thr Single submitter ⚠
- p.Ile577Asn Single submitter ⚠
- p.Ile577Thr Single submitter ⚠
- p.Leu328Val Single submitter ⚠
- p.Leu422Gln Single submitter
- p.Met438Val Single submitter ⚠
- p.Met469Val Single submitter ⚠
- p.Phe289Leu Single submitter ⚠
- p.Phe335Leu Single submitter ⚠
- p.Pro184Leu Single submitter ⚠
- p.Pro249Ser Single submitter ⚠
- p.Pro569Leu Single submitter ⚠
- p.Pro569Thr Single submitter ⚠
- p.Pro570Ser Single submitter ⚠
- p.Ser13Asn Single submitter ⚠
- p.Ser295Leu Single submitter ⚠
- p.Ser407Cys Single submitter ⚠
- p.Ser533Pro Single submitter ⚠
- p.Ser572Thr Single submitter ⚠
- p.Thr100Ile Single submitter ⚠
- p.Thr217Ile Single submitter ⚠
- p.Thr269Lys Single submitter ⚠
- p.Thr269Met Single submitter ⚠
- p.Thr540Ile Single submitter ⚠
- p.Thr9Met Single submitter ⚠
- p.Tyr373Cys Single submitter ⚠
- p.Tyr532Cys Single submitter premature ovarian failure 2B ⚠
- p.Tyr562Cys Single submitter ⚠
- p.Val48Gly Single submitter ⚠
- p.Val62Met Single submitter ⚠
- p.Val74Leu Single submitter premature ovarian failure 2B ⚠
- p.Val88Leu Single submitter ⚠