MMP7 — 40 ClinVar variants
All ClinVar germline MMP7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
5 Benign · 3 Likely benign · 32 Uncertain significance
Full MMP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MMP7 p.Ala152Asp Uncertain significance Single submitter
- MMP7 p.Ala159Val Uncertain significance Single submitter
- MMP7 p.Ala179Val Uncertain significance Single submitter
- MMP7 p.Ala24Val Uncertain significance Single submitter
- MMP7 p.Asp193Tyr Uncertain significance Single submitter
- MMP7 p.Asp46Asn Uncertain significance Single submitter
- MMP7 p.Cys7Tyr Uncertain significance Single submitter
- MMP7 p.Gln31Arg Uncertain significance Single submitter
- MMP7 p.Gly157Asp Uncertain significance Single submitter
- MMP7 p.His143Arg Uncertain significance Single submitter
- MMP7 p.His143Tyr Uncertain significance Single submitter
- MMP7 p.His178Arg Uncertain significance Single submitter
- MMP7 p.Leu128Val Uncertain significance Single submitter
- MMP7 p.Leu186Phe Uncertain significance Single submitter
- MMP7 p.Leu18Val Uncertain significance Single submitter
- MMP7 p.Lys40Asn Uncertain significance Single submitter
- MMP7 p.Lys58Arg Uncertain significance Single submitter
- MMP7 p.Met135Leu Uncertain significance Single submitter
- MMP7 p.Met73Lys Uncertain significance Single submitter
- MMP7 p.Phe244Val Uncertain significance Single submitter
- MMP7 p.Pro19Leu Uncertain significance Single submitter
- MMP7 p.Ser247Pro Uncertain significance Single submitter
- MMP7 p.Thr151Ala Uncertain significance Single submitter
- MMP7 p.Thr175Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- MMP7 p.Arg197Cys Uncertain significance Single submitter
- MMP7 p.Asp119Gly Uncertain significance Single submitter
- MMP7 p.Leu186Pro Uncertain significance Single submitter
- MMP7 p.Leu6Pro Uncertain significance Single submitter
- MMP7 p.Leu97Pro Uncertain significance Single submitter
- MMP7 p.Thr199Met Uncertain significance Single submitter
All MMP7 variants
Benign 5
- p.Arg77= Multiple submitters
- p.Asn51His Multiple submitters
- p.Ile113= Single submitter
- p.Pro241Leu Single submitter
- p.Tyr95= Single submitter
Likely benign 3
- p.Glu33Lys Single submitter
- p.Gly14Ser Single submitter
- p.His122Arg Single submitter
Uncertain significance 32
- p.Ala152Asp Single submitter ⚠
- p.Ala159Val Single submitter ⚠
- p.Ala179Val Single submitter ⚠
- p.Ala24Val Single submitter ⚠
- p.Arg197Cys Single submitter ⚠
- p.Asp119Gly Single submitter ⚠
- p.Asp193Tyr Single submitter ⚠
- p.Asp46Asn Single submitter ⚠
- p.Cys7Tyr Single submitter ⚠
- p.Gln31Arg Single submitter ⚠
- p.Gly157Asp Single submitter ⚠
- p.Gly187Arg Single submitter
- p.His143Arg Single submitter ⚠
- p.His143Tyr Single submitter ⚠
- p.His178Arg Single submitter ⚠
- p.Leu128Val Single submitter ⚠
- p.Leu186Phe Single submitter ⚠
- p.Leu186Pro Single submitter ⚠
- p.Leu18Val Single submitter ⚠
- p.Leu6Pro Single submitter ⚠
- p.Leu97Pro Single submitter ⚠
- p.Lys40Asn Single submitter ⚠
- p.Lys58Arg Single submitter ⚠
- p.Met135Leu Single submitter ⚠
- p.Met73Lys Single submitter ⚠
- p.Phe244Val Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Ser247Pro Single submitter ⚠
- p.Thr151Ala Single submitter ⚠
- p.Thr175Met Single submitter ⚠
- p.Thr199Met Single submitter ⚠
- p.Tyr111Cys Single submitter