AMOT — 128 ClinVar variants

All ClinVar germline AMOT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →

1 Likely pathogenic · 2 Conflicting · 8 Benign · 10 Likely benign · 107 Uncertain significance

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

⚑ Evidence disagreements 109

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.

AMOT p.Ala834Asp Conflicting Single submitter

Predictors lean, ClinVar uncertain 58

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

Predictors split 50

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

All AMOT variants

Likely pathogenic 1

p.Gln642His Single submitter Cerebral visual impairment and intellectual disability ⚠

Conflicting classifications of pathogenicity 2

p.Ala834Asp Single submitter ⚠
p.Pro986Leu Single submitter ⚠

Benign 8

p.Ala1032Val Multiple submitters
p.Ser316= Multiple submitters
p.Ser538= Multiple submitters
p.Ser780= Multiple submitters
p.Thr899Ala Multiple submitters
p.Pro982= Single submitter
p.Thr467= Single submitter
p.Val913_Pro921del Single submitter

Likely benign 10

p.Ala895_Ala901del Multiple submitters
p.Ala895Thr Single submitter
p.Ala917= Single submitter
p.Asn651Ser Single submitter
p.Asp443= Single submitter
p.Pro1008Leu Single submitter ⚠
p.Ser962Ala Single submitter
p.Val1022Leu Single submitter
p.Val913Ala Single submitter
p.Arg368His No assertion criteria

Uncertain significance 107

p.Ala1015fs Single submitter
p.Ala1023Pro Single submitter ⚠
p.Ala460Gly Single submitter ⚠
p.Ala703Thr Single submitter ⚠
p.Ala914Gly Single submitter ⚠
p.Ala920Pro Single submitter ⚠
p.Ala923Asp Single submitter ⚠
p.Ala933Thr Single submitter ⚠
p.Arg1039Cys Single submitter ⚠
p.Arg1064Gly Single submitter ⚠
p.Arg1064Ser Single submitter ⚠
p.Arg120Gln Single submitter ⚠
p.Arg146Gly Single submitter ⚠
p.Arg177Gln Single submitter ⚠
p.Arg24Cys Single submitter ⚠
p.Arg24Gly Single submitter ⚠
p.Arg267His Single submitter ⚠
p.Arg368Cys Single submitter ⚠
p.Arg412Trp Single submitter ⚠
p.Arg446Gln Single submitter ⚠
p.Arg502Gln Single submitter ⚠
p.Arg502Trp Single submitter ⚠
p.Arg509Gly Single submitter ⚠
p.Arg514His Single submitter ⚠
p.Arg534Lys Single submitter ⚠
p.Arg549Cys Single submitter ⚠
p.Arg549His Single submitter ⚠
p.Arg562Cys Single submitter ⚠
p.Arg630Gln Single submitter ⚠
p.Arg768Cys Single submitter ⚠
p.Arg768Leu Single submitter ⚠
p.Arg783Gln Single submitter ⚠
p.Arg833His Single submitter ⚠
p.Asn153Ser Single submitter ⚠
p.Asn445Ser Single submitter ⚠
p.Asn793Ser Single submitter ⚠
p.Asp344His Single submitter ⚠
p.Asp443Asn Single submitter ⚠
p.Asp697His Single submitter ⚠
p.Asp817Asn Single submitter ⚠
p.Cys617Ser Single submitter ⚠
p.Gln294Pro Single submitter ⚠
p.Gln371Leu Single submitter ⚠
p.Gln39His Single submitter ⚠
p.Gln39Leu Single submitter ⚠
p.Gln548Glu Single submitter ⚠
p.Gln7Leu Single submitter ⚠
p.Glu490Asp Single submitter ⚠
p.Glu662Asp Single submitter ⚠
p.Glu731Gln Single submitter ⚠
p.Gly1054Arg Single submitter ⚠
p.Gly10Val Single submitter ⚠
p.Gly155Ala Single submitter ⚠
p.Gly232Ser Single submitter ⚠
p.Gly246Ser Single submitter ⚠
p.Gly272Glu Single submitter ⚠
p.Gly51Val Single submitter ⚠
p.Gly795Val Single submitter ⚠
p.Gly830Arg Single submitter ⚠
p.Gly945Ser Single submitter ⚠
p.His1038Tyr Single submitter ⚠
p.His1058Tyr Single submitter ⚠
p.His191Tyr Single submitter ⚠
p.His266Leu Single submitter ⚠
p.His283Arg Single submitter ⚠
p.His362Tyr Single submitter ⚠
p.His67Asp Single submitter ⚠
p.Ile469Val Single submitter ⚠
p.Leu278Pro Single submitter ⚠
p.Leu314Pro Single submitter ⚠
p.Leu511Met Single submitter ⚠
p.Leu827Phe Single submitter ⚠
p.Lys255Asn Single submitter ⚠
p.Lys595Arg Single submitter ⚠
p.Met1079Ile Single submitter ⚠
p.Met1Thr Single submitter
p.Met410Val Single submitter ⚠
p.Met661Ile Single submitter ⚠
p.Met782Val Single submitter ⚠
p.Met789Ile Single submitter ⚠
p.Phe541Cys Single submitter ⚠
p.Pro240Gln Single submitter ⚠
p.Pro321Ser Single submitter ⚠
p.Pro403Ser Single submitter ⚠
p.Pro55Ser Single submitter ⚠
p.Pro912Ser Single submitter ⚠
p.Pro982Leu Single submitter ⚠
p.Pro98Ser Single submitter ⚠
p.Ser316Phe Single submitter ⚠
p.Ser319Pro Single submitter ⚠
p.Ser432Cys Single submitter ⚠
p.Ser50Cys Single submitter ⚠
p.Ser780Leu Single submitter ⚠
p.Ser780Thr Single submitter ⚠
p.Ser802Pro Single submitter ⚠
p.Ser928Phe Single submitter ⚠
p.Ser97Pro Single submitter ⚠
p.Thr13Met Single submitter ⚠
p.Thr274Pro Single submitter ⚠
p.Thr560Ser Single submitter ⚠
p.Thr750Ile Single submitter ⚠
p.Tyr132Cys Single submitter ⚠
p.Tyr263Cys Single submitter ⚠
p.Tyr407Phe Single submitter ⚠
p.Val472Leu Single submitter ⚠
p.Val480Leu Single submitter ⚠
p.Val600Ile Single submitter ⚠