AMMECR1 — 85 ClinVar variants
All ClinVar germline AMMECR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
5 Pathogenic · 8 Likely pathogenic · 4 Conflicting · 5 Benign · 8 Likely benign · 55 Uncertain significance
Full AMMECR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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.
Predictors lean, ClinVar uncertain 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMMECR1 p.Ala102Thr Uncertain significance Single submitter
- AMMECR1 p.Ala253Thr Uncertain significance Single submitter
- AMMECR1 p.Ala282Ser Uncertain significance Single submitter
- AMMECR1 p.Ala311Thr Uncertain significance Single submitter
- AMMECR1 p.Arg122Trp Uncertain significance Single submitter
-
AMMECR1 p.Arg201Cys
Uncertain significance
Single submitter
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- AMMECR1 p.Arg40Gly Uncertain significance Single submitter
- AMMECR1 p.Cys68Arg Uncertain significance Single submitter
- AMMECR1 p.Gln38His Uncertain significance Single submitter
- AMMECR1 p.Glu43Lys Uncertain significance Single submitter
- AMMECR1 p.Gly20Cys Uncertain significance Single submitter
- AMMECR1 p.Gly248Arg Uncertain significance Single submitter
-
AMMECR1 p.Gly264Val
Uncertain significance
Single submitter
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- AMMECR1 p.Gly7Trp Uncertain significance Single submitter
-
AMMECR1 p.His267Tyr
Uncertain significance
Single submitter
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- AMMECR1 p.Ile322Met Uncertain significance Single submitter
- AMMECR1 p.Ile322Thr Uncertain significance Single submitter
- AMMECR1 p.Leu230Met Uncertain significance Single submitter
- AMMECR1 p.Met205Leu Uncertain significance Single submitter
- AMMECR1 p.Met205Val Uncertain significance Single submitter
- AMMECR1 p.Pro108Ser Uncertain significance Single submitter
- AMMECR1 p.Pro17Leu Uncertain significance Single submitter
- AMMECR1 p.Pro17Ser Uncertain significance Single submitter
- AMMECR1 p.Pro72Ser Uncertain significance Single submitter
- AMMECR1 p.Ser105Ala Uncertain significance Single submitter
- AMMECR1 p.Thr60Ala Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- AMMECR1 p.Ile176Val Uncertain significance Multiple submitters
-
AMMECR1 p.Ala102Val
Uncertain significance
Single submitter
AMMECR1-related disorder
- AMMECR1 p.Arg168Gln Uncertain significance Single submitter
- AMMECR1 p.Gln74Lys Uncertain significance Single submitter
- AMMECR1 p.Glu156Gln Uncertain significance Single submitter
- AMMECR1 p.Gly321Asp Uncertain significance Single submitter
- AMMECR1 p.Gly61Val Uncertain significance Single submitter
- AMMECR1 p.Gly80Arg Uncertain significance Single submitter
- AMMECR1 p.Gly81Arg Uncertain significance Single submitter
- AMMECR1 p.Gly94Glu Uncertain significance Single submitter
- AMMECR1 p.Leu310Phe Uncertain significance Single submitter
- AMMECR1 p.Lys281Gln Uncertain significance Single submitter
- AMMECR1 p.Pro72Thr Uncertain significance Single submitter
- AMMECR1 p.Pro73His Uncertain significance Single submitter
- AMMECR1 p.Ser106Pro Uncertain significance Single submitter
- AMMECR1 p.Ser115Leu Uncertain significance Single submitter
- AMMECR1 p.Ser29Phe Uncertain significance Single submitter
- AMMECR1 p.Ser90Asn Uncertain significance Single submitter
- AMMECR1 p.Ser98Cys Uncertain significance Single submitter
- AMMECR1 p.Thr99Ile Uncertain significance Single submitter
- AMMECR1 p.Val8Ala Uncertain significance Single submitter
- AMMECR1 p.Val8Glu Uncertain significance Single submitter
-
AMMECR1 p.Pro119Arg
Likely benign
No assertion criteria
AMMECR1-related disorder
All AMMECR1 variants
Pathogenic 5
- p.Ala253fs Single submitter midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- p.Gln269Ter Single submitter midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- p.Gln74fs Single submitter
- p.Arg152fs No assertion criteria Short stature
- p.Gly177Asp No assertion criteria midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Likely pathogenic 8
- c.790+1G>A Single submitter nephrocalcinosis
- c.887+2T>A Single submitter midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- p.Trp164Ter Single submitter
- p.Trp265Ter Single submitter
- p.Tyr143Ter Single submitter midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- p.Tyr145fs Single submitter
- p.Val217Met Single submitter midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- c.888-610_*1821del No assertion criteria midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Conflicting classifications of pathogenicity 4
- p.Arg168Ter Single submitter midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- p.Gln74Glu Single submitter ⚠
- p.Pro18His Single submitter Skraban-Deardorff syndrome ⚠
- p.Thr95Ser Single submitter ⚠
Benign 5
- c.790+160C>T Multiple submitters
- c.887+43T>A Multiple submitters
- c.887+44G>T Multiple submitters
- p.Asn320= Multiple submitters
- p.Lys250= Single submitter
Likely benign 8
- p.Ala84Ser Single submitter
- p.Cys134= Single submitter
- p.Cys6= Single submitter
- p.Gln319= Single submitter
- p.Glu287= Single submitter
- p.Gly4= Single submitter
- p.Leu274= Single submitter
- p.Pro119Arg No assertion criteria AMMECR1-related disorder ⚠
Uncertain significance 55
- p.Ile176Val Multiple submitters ⚠
- c.*3C>A Single submitter
- p.Ala102Thr Single submitter ⚠
- p.Ala102Val Single submitter AMMECR1-related disorder ⚠
- p.Ala253Thr Single submitter ⚠
- p.Ala282Ser Single submitter ⚠
- p.Ala311Thr Single submitter ⚠
- p.Arg122Trp Single submitter ⚠
- p.Arg168Gln Single submitter ⚠
- p.Arg201Cys Single submitter midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ⚠
- p.Arg40Gly Single submitter ⚠
- p.Cys68Arg Single submitter ⚠
- p.Gln38His Single submitter ⚠
- p.Gln74Lys Single submitter ⚠
- p.Glu156Gln Single submitter ⚠
- p.Glu300Ter Single submitter
- p.Glu43Lys Single submitter ⚠
- p.Gly20Cys Single submitter ⚠
- p.Gly248Arg Single submitter ⚠
- p.Gly264Val Single submitter midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ⚠
- p.Gly279Ter Single submitter midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- p.Gly321Asp Single submitter ⚠
- p.Gly61Val Single submitter ⚠
- p.Gly7Trp Single submitter ⚠
- p.Gly80Arg Single submitter ⚠
- p.Gly81Arg Single submitter ⚠
- p.Gly94Glu Single submitter ⚠
- p.His267Tyr Single submitter midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ⚠
- p.His317del Single submitter
- p.Ile176_Phe179delinsMetTer Single submitter
- p.Ile322Met Single submitter ⚠
- p.Ile322Thr Single submitter ⚠
- p.Leu230Met Single submitter ⚠
- p.Leu310Phe Single submitter ⚠
- p.Lys281Gln Single submitter ⚠
- p.Met205Leu Single submitter ⚠
- p.Met205Val Single submitter ⚠
- p.Pro108Ser Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro17Ser Single submitter ⚠
- p.Pro72Ser Single submitter ⚠
- p.Pro72Thr Single submitter ⚠
- p.Pro73His Single submitter ⚠
- p.Ser105Ala Single submitter ⚠
- p.Ser106Pro Single submitter ⚠
- p.Ser115Leu Single submitter ⚠
- p.Ser118del Single submitter
- p.Ser29Phe Single submitter ⚠
- p.Ser31_His32insPro Single submitter
- p.Ser90Asn Single submitter ⚠
- p.Ser98Cys Single submitter ⚠
- p.Thr60Ala Single submitter ⚠
- p.Thr99Ile Single submitter ⚠
- p.Val8Ala Single submitter ⚠
- p.Val8Glu Single submitter ⚠