AMFR — 87 ClinVar variants

All ClinVar germline AMFR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

6 Pathogenic · 1 Likely pathogenic · 6 Likely benign · 74 Uncertain significance

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

⚑ Evidence disagreements 74

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 lean, ClinVar uncertain 43

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

Predictors split 31

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

All AMFR variants

Pathogenic 6

p.Cys364Ter Single submitter
c.1086-97_1380+375del No assertion criteria spastic paraplegia 89, autosomal recessive
p.Leu292fs No assertion criteria spastic paraplegia 89, autosomal recessive
p.Phe5fs No assertion criteria spastic paraplegia 89, autosomal recessive
p.Trp123Ter No assertion criteria spastic paraplegia 89, autosomal recessive
p.Trp85Ter No assertion criteria spastic paraplegia 89, autosomal recessive

Likely pathogenic 1

c.707+1G>A Single submitter spastic paraplegia 89, autosomal recessive

Likely benign 6

p.Ala631= Single submitter
p.Gly552Ser Single submitter
p.Ile206Val Single submitter
p.Phe551= Single submitter
p.Thr178= Single submitter
p.Thr534= Single submitter

Uncertain significance 74

p.Arg389His Multiple submitters Marfanoid habitus and intellectual disability ⚠
p.Ala231Ser Single submitter ⚠
p.Ala324Val Single submitter ⚠
p.Ala385Thr Single submitter ⚠
p.Ala407Pro Single submitter ⚠
p.Ala606Val Single submitter ⚠
p.Ala617Val Single submitter ⚠
p.Ala91Thr Single submitter ⚠
p.Arg15Ser Single submitter ⚠
p.Arg168Gln Single submitter ⚠
p.Arg185Gln Single submitter ⚠
p.Arg299His Single submitter ⚠
p.Arg307Cys Single submitter ⚠
p.Arg310His Single submitter ⚠
p.Arg352Trp Single submitter ⚠
p.Arg366His Single submitter ⚠
p.Arg389Cys Single submitter ⚠
p.Arg414His Single submitter ⚠
p.Arg497Gln Single submitter ⚠
p.Arg506Trp Single submitter ⚠
p.Arg536Cys Single submitter ⚠
p.Arg544Cys Single submitter ⚠
p.Arg567Leu Single submitter ⚠
p.Arg578Lys Single submitter ⚠
p.Arg626Gln Single submitter ⚠
p.Arg635Gln Single submitter ⚠
p.Arg69Trp Single submitter ⚠
p.Arg71Cys Single submitter ⚠
p.Arg71His Single submitter ⚠
p.Arg71Pro Single submitter ⚠
p.Asn314Asp Single submitter ⚠
p.Cys104Tyr Single submitter ⚠
p.Gln584Arg Single submitter ⚠
p.Glu439Ala Single submitter ⚠
p.Glu56Lys Single submitter ⚠
p.Gly184Ser Single submitter ⚠
p.Gly19Val Single submitter ⚠
p.Gly208Val Single submitter ⚠
p.Gly22Ser Single submitter ⚠
p.Gly283Ser Single submitter ⚠
p.Gly528Val Single submitter ⚠
p.Gly616Cys Single submitter ⚠
p.Gly66Trp Single submitter ⚠
p.His312Leu Single submitter ⚠
p.His462Leu Single submitter ⚠
p.Ile131Asn Single submitter ⚠
p.Ile446Val Single submitter ⚠
p.Ile449Phe Single submitter ⚠
p.Ile449Val Single submitter ⚠
p.Ile464Phe Single submitter ⚠
p.Leu225Val Single submitter ⚠
p.Leu266Phe Single submitter ⚠
p.Leu334Met Single submitter ⚠
p.Leu477Arg Single submitter ⚠
p.Lys353Thr Single submitter ⚠
p.Met274Thr Single submitter ⚠
p.Met380Ile Single submitter ⚠
p.Met380Leu Single submitter ⚠
p.Phe157Cys Single submitter ⚠
p.Phe326Leu Single submitter ⚠
p.Phe83Leu Single submitter ⚠
p.Pro63Arg Single submitter ⚠
p.Pro68Ser Single submitter ⚠
p.Ser181Arg Single submitter ⚠
p.Ser381Pro Single submitter ⚠
p.Ser618Ala Single submitter ⚠
p.Thr16Ile Single submitter ⚠
p.Thr267Ala Single submitter ⚠
p.Thr534Ile Single submitter ⚠
p.Thr548Met Single submitter ⚠
p.Val293Ile Single submitter ⚠
p.Val556Leu Single submitter ⚠
p.Val622Met Single submitter ⚠
p.Arg596Cys No assertion criteria breast ductal adenocarcinoma ⚠