AMMECR1L — 26 ClinVar variants
All ClinVar germline AMMECR1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Benign · 2 Likely benign · 23 Uncertain significance
Full AMMECR1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMMECR1L p.Ala85Val Uncertain significance Single submitter
- AMMECR1L p.Arg127Gln Uncertain significance Single submitter
- AMMECR1L p.Arg149Trp Uncertain significance Single submitter
- AMMECR1L p.Arg291Gln Uncertain significance Single submitter
- AMMECR1L p.Arg91Gln Uncertain significance Single submitter
- AMMECR1L p.Asn161Ser Uncertain significance Single submitter
- AMMECR1L p.Asn307Ser Uncertain significance Single submitter
- AMMECR1L p.Asn73Ser Uncertain significance Single submitter
- AMMECR1L p.Asp242Gly Uncertain significance Single submitter
- AMMECR1L p.Glu286Asp Uncertain significance Single submitter
- AMMECR1L p.His293Asp Uncertain significance Single submitter
- AMMECR1L p.His32Arg Uncertain significance Single submitter
- AMMECR1L p.Ile282Val Uncertain significance Single submitter
- AMMECR1L p.Lys25Arg Uncertain significance Single submitter
- AMMECR1L p.Met160Thr Uncertain significance Single submitter
- AMMECR1L p.Pro81Leu Uncertain significance Single submitter
- AMMECR1L p.Ser74Cys Uncertain significance Single submitter
- AMMECR1L p.Thr141Met Uncertain significance Single submitter
- AMMECR1L p.Thr77Ser Uncertain significance Single submitter
- AMMECR1L p.Tyr121Cys Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All AMMECR1L variants
Benign 1
- p.Ala82Pro Multiple submitters
Likely benign 2
- p.Asn297= Single submitter
- p.Ser57Gly Single submitter
Uncertain significance 23
- p.Ala85Val Single submitter ⚠
- p.Arg127Gln Single submitter ⚠
- p.Arg146Gln Single submitter
- p.Arg149Trp Single submitter ⚠
- p.Arg291Gln Single submitter ⚠
- p.Arg91Gln Single submitter ⚠
- p.Asn161Ser Single submitter ⚠
- p.Asn307Ser Single submitter ⚠
- p.Asn73Ser Single submitter ⚠
- p.Asp242Gly Single submitter ⚠
- p.Cys109Gly Single submitter ⚠
- p.Glu286Asp Single submitter ⚠
- p.His293Asp Single submitter ⚠
- p.His32Arg Single submitter ⚠
- p.Ile282Val Single submitter ⚠
- p.Lys25Arg Single submitter ⚠
- p.Met160Thr Single submitter ⚠
- p.Phe192Leu Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Ser74Cys Single submitter ⚠
- p.Thr141Met Single submitter ⚠
- p.Thr77Ser Single submitter ⚠
- p.Tyr121Cys Single submitter ⚠