SOBP — 195 ClinVar variants

All ClinVar germline SOBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 137 flagged for review →

3 Conflicting · 4 Benign · 4 Benign/Likely benign · 35 Likely benign · 149 Uncertain significance

Full SOBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 137

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.

SOBP p.Gln604Lys Conflicting Single submitter
intellectual disability, anterior maxillary protrusion, and strabismus
SOBP p.Ser583Pro Conflicting Single submitter

Predictors lean, ClinVar uncertain 109

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 26

The independent predictors disagree with each other — read with care.

All SOBP variants

Conflicting classifications of pathogenicity 3

p.Gln604Lys Single submitter intellectual disability, anterior maxillary protrusion, and strabismus ⚠
p.His73= Single submitter
p.Ser583Pro Single submitter ⚠

Benign 4

p.Ile539Val Multiple submitters
p.Pro751dup Multiple submitters
p.Ser683Gly Multiple submitters intellectual disability, anterior maxillary protrusion, and strabismus
p.Leu821= Single submitter

Benign/Likely benign 4

p.630PPG[3] Multiple submitters
p.Pro472= Multiple submitters intellectual disability, anterior maxillary protrusion, and strabismus
p.Pro751del Multiple submitters
p.Thr107Ala Multiple submitters

Likely benign 35

p.Gly510= Multiple submitters
p.Gly575= Multiple submitters
p.His461Pro Multiple submitters
p.Pro711= Multiple submitters
p.Val531= Multiple submitters
p.Ala730Gly Single submitter
p.Ala752= Single submitter
p.Arg15= Single submitter
p.Asn13Ser Single submitter
p.Asp803= Single submitter
p.Asp811= Single submitter
p.Gln320= Single submitter
p.Gly799= Single submitter
p.Gly8= Single submitter
p.Ile403= Single submitter
p.Leu271= Single submitter
p.Leu517= Single submitter
p.Leu640= Single submitter
p.Pro133= Single submitter
p.Pro422= Single submitter
p.Pro463= Single submitter
p.Pro466= Single submitter
p.Pro473= Single submitter
p.Pro500= Single submitter
p.Pro528= Single submitter
p.Pro599= Single submitter
p.Pro631= Single submitter
p.Pro649= Single submitter
p.Pro749_Pro751del Single submitter
p.Pro751= Single submitter
p.Pro834= Single submitter
p.Ser547Asn Single submitter
p.Ser94= Single submitter
p.Ala764= No assertion criteria SOBP-related disorder
p.Pro763= No assertion criteria SOBP-related disorder

Uncertain significance 149

c.573+12G>A Multiple submitters
p.Ala208Thr Multiple submitters intellectual disability, anterior maxillary protrusion, and strabismus ⚠
p.Ala702Val Multiple submitters ⚠
p.Glu89Lys Multiple submitters ⚠
p.Lys862Asn Multiple submitters ⚠
p.Pro138Leu Multiple submitters
p.Pro139Ser Multiple submitters intellectual disability, anterior maxillary protrusion, and strabismus ⚠
p.Pro441Ser Multiple submitters intellectual disability, anterior maxillary protrusion, and strabismus ⚠
p.Pro577Ser Multiple submitters intellectual disability, anterior maxillary protrusion, and strabismus ⚠
p.Pro750_Pro751dup Multiple submitters
p.Pro754Ser Multiple submitters ⚠
c.574-3C>T Single submitter intellectual disability, anterior maxillary protrusion, and strabismus
p.Ala180Val Single submitter ⚠
p.Ala269Pro Single submitter ⚠
p.Ala311Ser Single submitter ⚠
p.Ala338Pro Single submitter ⚠
p.Ala566Val Single submitter ⚠
p.Ala571Val Single submitter ⚠
p.Ala573Val Single submitter ⚠
p.Ala627Val Single submitter ⚠
p.Ala674Thr Single submitter ⚠
p.Ala684Val Single submitter ⚠
p.Ala730Val Single submitter ⚠
p.Ala752Val Single submitter ⚠
p.Ala764Val Single submitter ⚠
p.Ala795Val Single submitter ⚠
p.Ala815Thr Single submitter ⚠
p.Arg213Ser Single submitter ⚠
p.Arg308Gly Single submitter
p.Arg381Trp Single submitter ⚠
p.Arg408Cys Single submitter ⚠
p.Arg585Trp Single submitter ⚠
p.Arg617Gly Single submitter ⚠
p.Arg687Cys Single submitter ⚠
p.Arg694Thr Single submitter ⚠
p.Arg9Lys Single submitter ⚠
p.Asn256His Single submitter ⚠
p.Asn360His Single submitter ⚠
p.Asn471Ser Single submitter ⚠
p.Asn553Ser Single submitter ⚠
p.Asn666Lys Single submitter ⚠
p.Asn721Lys Single submitter intellectual disability, anterior maxillary protrusion, and strabismus ⚠
p.Asn779Ser Single submitter ⚠
p.Asp596Glu Single submitter ⚠
p.Asp783= Single submitter
p.Asp783Glu Single submitter ⚠
p.Asp90Asn Single submitter ⚠
p.Gln148His Single submitter ⚠
p.Gln402His Single submitter ⚠
p.Gln639His Single submitter ⚠
p.Gln647Arg Single submitter ⚠
p.Gln829Arg Single submitter ⚠
p.Glu176Lys Single submitter ⚠
p.Glu614Lys Single submitter ⚠
p.Glu686Gly Single submitter ⚠
p.Glu715Ala Single submitter ⚠
p.Glu812Lys Single submitter ⚠
p.Glu89Gln Single submitter ⚠
p.Gly373Arg Single submitter ⚠
p.Gly373Val Single submitter ⚠
p.Gly435Arg Single submitter ⚠
p.Gly482Ala Single submitter ⚠
p.Gly590Ser Single submitter ⚠
p.Gly600Ala Single submitter ⚠
p.Gly628Val Single submitter ⚠
p.Gly632= Single submitter
p.Gly632Ala Single submitter ⚠
p.Gly632Ser Single submitter ⚠
p.Gly635= Single submitter
p.Gly696Cys Single submitter ⚠
p.Gly696Ser Single submitter ⚠
p.Gly726Arg Single submitter ⚠
p.Gly799Val Single submitter ⚠
p.His580Arg Single submitter ⚠
p.His615Arg Single submitter ⚠
p.His669Tyr Single submitter ⚠
p.His675Gln Single submitter ⚠
p.Ile345Ser Single submitter ⚠
p.Ile372= Single submitter
p.Ile654Phe Single submitter ⚠
p.Ile98Val Single submitter ⚠
p.Leu444Pro Single submitter ⚠
p.Leu456Gln Single submitter ⚠
p.Leu646Gln Single submitter ⚠
p.Lys351Arg Single submitter ⚠
p.Lys550Arg Single submitter ⚠
p.Lys576Arg Single submitter ⚠
p.Lys593Glu Single submitter ⚠
p.Lys756= Single submitter
p.Lys756Arg Single submitter ⚠
p.Met385Thr Single submitter ⚠
p.Met387Ile Single submitter ⚠
p.Met506Val Single submitter ⚠
p.Met840Val Single submitter ⚠
p.Pro11His Single submitter ⚠
p.Pro138= Single submitter
p.Pro139Gln Single submitter ⚠
p.Pro19Thr Single submitter ⚠
p.Pro297Ser Single submitter ⚠
p.Pro326Ala Single submitter ⚠
p.Pro326Ser Single submitter ⚠
p.Pro348Ala Single submitter ⚠
p.Pro350Leu Single submitter ⚠
p.Pro350Ser Single submitter ⚠
p.Pro354His Single submitter ⚠
p.Pro415Arg Single submitter
p.Pro425Thr Single submitter
p.Pro458Thr Single submitter ⚠
p.Pro462Ser Single submitter ⚠
p.Pro466Thr Single submitter ⚠
p.Pro473Leu Single submitter ⚠
p.Pro489Ser Single submitter ⚠
p.Pro491Leu Single submitter ⚠
p.Pro564Arg Single submitter ⚠
p.Pro598Ser Single submitter ⚠
p.Pro633Ser Single submitter ⚠
p.Pro634Arg Single submitter ⚠
p.Pro649Leu Single submitter ⚠
p.Pro682Ser Single submitter ⚠
p.Pro711Thr Single submitter ⚠
p.Pro742Leu Single submitter intellectual disability, anterior maxillary protrusion, and strabismus ⚠
p.Pro742Ser Single submitter ⚠
p.Pro745Arg Single submitter ⚠
p.Pro747Ser Single submitter ⚠
p.Pro748Leu Single submitter ⚠
p.Pro754Arg Single submitter ⚠
p.Pro760Ser Single submitter ⚠
p.Pro763Ser Single submitter ⚠
p.Pro804= Single submitter
p.Pro854Ala Single submitter ⚠
p.Ser103Pro Single submitter ⚠
p.Ser16Asn Single submitter ⚠
p.Ser327Leu Single submitter ⚠
p.Ser464Arg Single submitter ⚠
p.Ser578Arg Single submitter ⚠
p.Ser583Thr Single submitter ⚠
p.Ser583Tyr Single submitter ⚠
p.Ser587Phe Single submitter ⚠
p.Ser81Cys Single submitter ⚠
p.Thr211Ala Single submitter ⚠
p.Thr657Ser Single submitter ⚠
p.Thr66Ala Single submitter ⚠
p.Trp153Ser Single submitter ⚠
p.Tyr162Cys Single submitter ⚠
p.Val124Ala Single submitter ⚠
p.Val366Ile Single submitter ⚠
p.Val667Gly Single submitter ⚠
p.Val676Gly Single submitter ⚠
p.Val827Met Single submitter ⚠