EMC7 — 23 ClinVar variants
All ClinVar germline EMC7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Benign · 1 Likely benign · 21 Uncertain significance
Full EMC7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EMC7 p.Ala4Val Uncertain significance Single submitter
- EMC7 p.Gly237Ala Uncertain significance Single submitter
- EMC7 p.Gly40Ser Uncertain significance Single submitter
- EMC7 p.Phe77Val Uncertain significance Single submitter
- EMC7 p.Phe8Leu Uncertain significance Single submitter
- EMC7 p.Pro27Ala Uncertain significance Single submitter
- EMC7 p.Ser24Leu Uncertain significance Single submitter
- EMC7 p.Val132Leu Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- EMC7 p.Ala238Pro Uncertain significance Single submitter
- EMC7 p.Ala30Val Uncertain significance Single submitter
- EMC7 p.Ala31Thr Uncertain significance Single submitter
- EMC7 p.Arg44His Uncertain significance Single submitter
- EMC7 p.Asp43Asn Uncertain significance Single submitter
- EMC7 p.Asp43His Uncertain significance Single submitter
- EMC7 p.Ile112Val Uncertain significance Single submitter
- EMC7 p.Leu171Val Uncertain significance Single submitter
- EMC7 p.Met194Val Uncertain significance Single submitter
- EMC7 p.Met198Val Uncertain significance Single submitter
- EMC7 p.Ser226Phe Uncertain significance Single submitter
- EMC7 p.Ser63Leu Uncertain significance Single submitter
- EMC7 p.Thr128Ile Uncertain significance Single submitter
All EMC7 variants
Benign 1
- p.Gly38= Multiple submitters
Likely benign 1
- p.Pro10Ser Single submitter
Uncertain significance 21
- p.Ala238Pro Single submitter ⚠
- p.Ala30Val Single submitter ⚠
- p.Ala31Thr Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Arg44His Single submitter ⚠
- p.Asp43Asn Single submitter ⚠
- p.Asp43His Single submitter ⚠
- p.Gly237Ala Single submitter ⚠
- p.Gly40Ser Single submitter ⚠
- p.Ile112Val Single submitter ⚠
- p.Leu171Val Single submitter ⚠
- p.Met194Val Single submitter ⚠
- p.Met198Val Single submitter ⚠
- p.Phe77Val Single submitter ⚠
- p.Phe8Leu Single submitter ⚠
- p.Pro27Ala Single submitter ⚠
- p.Ser226Phe Single submitter ⚠
- p.Ser24Leu Single submitter ⚠
- p.Ser63Leu Single submitter ⚠
- p.Thr128Ile Single submitter ⚠
- p.Val132Leu Single submitter ⚠