CARNMT1 — 51 ClinVar variants
All ClinVar germline CARNMT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
1 Likely pathogenic · 1 Benign · 1 Likely benign · 48 Uncertain significance
Full CARNMT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CARNMT1 p.Arg13Pro Uncertain significance Single submitter
- CARNMT1 p.Asn288Asp Uncertain significance Single submitter
- CARNMT1 p.Asp117Glu Uncertain significance Single submitter
- CARNMT1 p.Glu26Gly Uncertain significance Single submitter
- CARNMT1 p.Glu27Lys Uncertain significance Single submitter
- CARNMT1 p.Glu354Lys Uncertain significance Single submitter
- CARNMT1 p.Ile122Met Uncertain significance Single submitter
- CARNMT1 p.Ile122Val Uncertain significance Single submitter
- CARNMT1 p.Ile248Val Uncertain significance Single submitter
- CARNMT1 p.Leu205Pro Uncertain significance Single submitter
- CARNMT1 p.Lys250Gln Uncertain significance Single submitter
- CARNMT1 p.Lys374Asn Uncertain significance Single submitter
- CARNMT1 p.Met220Val Uncertain significance Single submitter
- CARNMT1 p.Met393Val Uncertain significance Single submitter
- CARNMT1 p.Met80Val Uncertain significance Single submitter
- CARNMT1 p.Thr161Met Uncertain significance Single submitter
- CARNMT1 p.Thr385Ile Uncertain significance Single submitter
- CARNMT1 p.Trp230Arg Uncertain significance Single submitter
- CARNMT1 p.Tyr76His Uncertain significance Single submitter
- CARNMT1 p.Val166Glu Uncertain significance Single submitter
- CARNMT1 p.Val30Met Uncertain significance Single submitter
- CARNMT1 p.Val375Leu Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- CARNMT1 p.Ala49Val Uncertain significance Single submitter
- CARNMT1 p.Arg63His Uncertain significance Single submitter
- CARNMT1 p.Arg83Gln Uncertain significance Single submitter
- CARNMT1 p.Asn249His Uncertain significance Single submitter
- CARNMT1 p.Asn353Ser Uncertain significance Single submitter
- CARNMT1 p.Asp198Asn Uncertain significance Single submitter
- CARNMT1 p.Asp198His Uncertain significance Single submitter
- CARNMT1 p.Asp307Asn Uncertain significance Single submitter
- CARNMT1 p.Glu195Gln Uncertain significance Single submitter
- CARNMT1 p.Glu195Gly Uncertain significance Single submitter
- CARNMT1 p.Glu26Lys Uncertain significance Single submitter
- CARNMT1 p.Glu298Asp Uncertain significance Single submitter
- CARNMT1 p.Glu62Asp Uncertain significance Single submitter
- CARNMT1 p.Glu62Gln Uncertain significance Single submitter
- CARNMT1 p.Gly19Arg Uncertain significance Single submitter
- CARNMT1 p.Gly19Trp Uncertain significance Single submitter
- CARNMT1 p.Gly21Ala Uncertain significance Single submitter
- CARNMT1 p.Gly22Asp Uncertain significance Single submitter
- CARNMT1 p.Gly286Val Uncertain significance Single submitter
- CARNMT1 p.His108Gln Uncertain significance Single submitter
- CARNMT1 p.His108Tyr Uncertain significance Single submitter
- CARNMT1 p.His65Arg Uncertain significance Single submitter
- CARNMT1 p.Leu189Phe Uncertain significance Single submitter
- CARNMT1 p.Met133Ile Uncertain significance Single submitter
- CARNMT1 p.Pro7Thr Uncertain significance Single submitter
- CARNMT1 p.Ser39Leu Uncertain significance Single submitter
-
CARNMT1 p.Gly77Asp
Likely pathogenic
No assertion criteria
intellectual disability
All CARNMT1 variants
Likely pathogenic 1
- p.Gly77Asp No assertion criteria intellectual disability ⚠
Benign 1
- p.Asp295= Multiple submitters
Likely benign 1
- p.Leu369= Single submitter
Uncertain significance 48
- p.Ala49Val Single submitter ⚠
- p.Arg13Pro Single submitter ⚠
- p.Arg63His Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Asn249His Single submitter ⚠
- p.Asn288Asp Single submitter ⚠
- p.Asn353Ser Single submitter ⚠
- p.Asp117Glu Single submitter ⚠
- p.Asp198Asn Single submitter ⚠
- p.Asp198His Single submitter ⚠
- p.Asp307Asn Single submitter ⚠
- p.Glu195Gln Single submitter ⚠
- p.Glu195Gly Single submitter ⚠
- p.Glu26Gly Single submitter ⚠
- p.Glu26Lys Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Glu298Asp Single submitter ⚠
- p.Glu354Lys Single submitter ⚠
- p.Glu62Asp Single submitter ⚠
- p.Glu62Gln Single submitter ⚠
- p.Gly19Arg Single submitter ⚠
- p.Gly19Trp Single submitter ⚠
- p.Gly21Ala Single submitter ⚠
- p.Gly22Asp Single submitter ⚠
- p.Gly286Val Single submitter ⚠
- p.His108Gln Single submitter ⚠
- p.His108Tyr Single submitter ⚠
- p.His65Arg Single submitter ⚠
- p.Ile122Met Single submitter ⚠
- p.Ile122Val Single submitter ⚠
- p.Ile248Val Single submitter ⚠
- p.Leu189Phe Single submitter ⚠
- p.Leu205Pro Single submitter ⚠
- p.Lys250Gln Single submitter ⚠
- p.Lys374Asn Single submitter ⚠
- p.Met133Ile Single submitter ⚠
- p.Met220Val Single submitter ⚠
- p.Met393Val Single submitter ⚠
- p.Met80Val Single submitter ⚠
- p.Pro7Thr Single submitter ⚠
- p.Ser39Leu Single submitter ⚠
- p.Thr161Met Single submitter ⚠
- p.Thr385Ile Single submitter ⚠
- p.Trp230Arg Single submitter ⚠
- p.Tyr76His Single submitter ⚠
- p.Val166Glu Single submitter ⚠
- p.Val30Met Single submitter ⚠
- p.Val375Leu Single submitter ⚠