MMP1 — 133 ClinVar variants
All ClinVar germline MMP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
1 Conflicting · 35 Benign · 19 Likely benign · 78 Uncertain significance
Full MMP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MMP1 p.Ala128Pro Uncertain significance Single submitter
- MMP1 p.Ala133Pro Uncertain significance Single submitter
- MMP1 p.Ala335Gly Uncertain significance Single submitter
- MMP1 p.Ala81Ser Uncertain significance Single submitter
- MMP1 p.Arg165Lys Uncertain significance Single submitter
- MMP1 p.Arg169Trp Uncertain significance Single submitter
- MMP1 p.Arg262His Uncertain significance Single submitter
- MMP1 p.Arg304Ser Uncertain significance Single submitter
- MMP1 p.Arg467Ser Uncertain significance Single submitter
- MMP1 p.Asn346Thr Uncertain significance Single submitter
- MMP1 p.Asn46Thr Uncertain significance Single submitter
- MMP1 p.Asp129Tyr Uncertain significance Single submitter
- MMP1 p.Asp200Glu Uncertain significance Single submitter
- MMP1 p.Asp336Asn Uncertain significance Single submitter
- MMP1 p.Asp378Asn Uncertain significance Single submitter
- MMP1 p.Asp96Tyr Uncertain significance Single submitter
- MMP1 p.Gln29Lys Uncertain significance Single submitter
- MMP1 p.Gln66Glu Uncertain significance Single submitter
- MMP1 p.Glu333Lys Uncertain significance Single submitter
- MMP1 p.Gly221Ser Uncertain significance Single submitter
- MMP1 p.Gly271Ala Uncertain significance Single submitter
- MMP1 p.His218Pro Uncertain significance Single submitter
- MMP1 p.His228Arg Uncertain significance Single submitter
- MMP1 p.His228Asn Uncertain significance Single submitter
- MMP1 p.His358Gln Uncertain significance Single submitter
- MMP1 p.Ile259Thr Uncertain significance Single submitter
- MMP1 p.Ile270Phe Uncertain significance Single submitter
- MMP1 p.Ile364Val Uncertain significance Single submitter
- MMP1 p.Ile377Val Uncertain significance Single submitter
- MMP1 p.Ile454Val Uncertain significance Single submitter
- MMP1 p.Lys446Arg Uncertain significance Single submitter
- MMP1 p.Met236Lys Uncertain significance Single submitter
- MMP1 p.Met236Thr Uncertain significance Single submitter
- MMP1 p.Met407Val Uncertain significance Single submitter
- MMP1 p.Phe138Cys Uncertain significance Single submitter
- MMP1 p.Phe391Cys Uncertain significance Single submitter
- MMP1 p.Pro187Ala Uncertain significance Single submitter
- MMP1 p.Pro449Ala Uncertain significance Single submitter
- MMP1 p.Ser229Phe Uncertain significance Single submitter
- MMP1 p.Thr103Ile Uncertain significance Single submitter
- MMP1 p.Thr148Arg Uncertain significance Single submitter
- MMP1 p.Thr204Ile Uncertain significance Single submitter
- MMP1 p.Thr288Ala Uncertain significance Single submitter
- MMP1 p.Thr289Ala Uncertain significance Single submitter
- MMP1 p.Thr289Met Uncertain significance Single submitter
- MMP1 p.Thr305Ala Uncertain significance Single submitter
- MMP1 p.Thr76Pro Uncertain significance Single submitter
- MMP1 p.Trp13Cys Uncertain significance Single submitter
- MMP1 p.Trp398Cys Uncertain significance Single submitter
- MMP1 p.Tyr210Cys Uncertain significance Single submitter
- MMP1 p.Tyr445Asn Uncertain significance Single submitter
- MMP1 p.Val130Leu Uncertain significance Single submitter
- MMP1 p.Val15Ala Uncertain significance Single submitter
- MMP1 p.Val312Ala Uncertain significance Single submitter
- MMP1 p.Val31Gly Uncertain significance Single submitter
- MMP1 p.Val34Ile Uncertain significance Single submitter
- MMP1 p.Val60Leu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- MMP1 p.Arg262Cys Uncertain significance Single submitter
- MMP1 p.Asn171Lys Uncertain significance Single submitter
- MMP1 p.Glu339Asp Uncertain significance Single submitter
- MMP1 p.Gly327Trp Uncertain significance Single submitter
- MMP1 p.Gly359Ala Uncertain significance Single submitter
- MMP1 p.Ile253Thr Uncertain significance Single submitter
- MMP1 p.Ile377Met Uncertain significance Single submitter
- MMP1 p.Lys40Glu Uncertain significance Single submitter
- MMP1 p.Lys432Ile Uncertain significance Single submitter
- MMP1 p.Phe438Leu Uncertain significance Single submitter
- MMP1 p.Phe447Leu Uncertain significance Single submitter
- MMP1 p.Pro126Gln Uncertain significance Single submitter
- MMP1 p.Ser227Phe Uncertain significance Single submitter
- MMP1 p.Thr122Ser Uncertain significance Single submitter
- MMP1 p.Tyr390His Uncertain significance Single submitter
- MMP1 p.Tyr437Cys Uncertain significance Single submitter
- MMP1 p.Val374Met Benign Single submitter
All MMP1 variants
Conflicting classifications of pathogenicity 1
- p.Ser406Thr Single submitter ⚠
Benign 35
- c.105+115del Multiple submitters preterm premature rupture of the membranes
- c.105+17A>G Multiple submitters
- c.105+32A>C Multiple submitters
- c.105+33A>T Multiple submitters
- c.1197-128C>T Multiple submitters
- c.1197-58T>C Multiple submitters
- c.1301-24A>C Multiple submitters
- c.781+19A>G Multiple submitters
- c.782-15T>C Multiple submitters
- c.782-21T>C Multiple submitters
- c.900-13T>A Multiple submitters
- c.900-239A>C Multiple submitters
- c.900-34A>G Multiple submitters
- c.-59C>T Multiple submitters
- c.*184T>C Multiple submitters
- c.*269C>T Multiple submitters
- c.*44A>G Multiple submitters
- c.*63C>T Multiple submitters
- p.Ala216= Multiple submitters
- p.Ala277= Multiple submitters
- p.Gly105= Multiple submitters
- c.1034-240A>G Single submitter
- c.105+114_105+115del Single submitter
- c.1196+251C>G Single submitter
- c.1197-220C>T Single submitter
- c.625+332G>A Single submitter
- c.626-219G>T Single submitter
- c.626-317C>A Single submitter
- c.899+221T>A Single submitter
- c.899+236A>G Single submitter
- c.900-8dup Single submitter
- p.Asp433= Single submitter
- p.Ile191fs Single submitter
- p.Val374Met Single submitter ⚠
- c.-1673G= No assertion criteria PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN
Likely benign 19
- p.Thr122Met Multiple submitters
- p.Thr83Asn Multiple submitters COPD, severe early onset
- c.1033+16A>C Single submitter
- c.350+4G>A Single submitter
- p.Ala22Val Single submitter
- p.Ala277Val Single submitter
- p.Ala335= Single submitter
- p.Arg399= Single submitter
- p.Arg54Gln Single submitter
- p.Gly178= Single submitter
- p.Ile191Val Single submitter
- p.Leu11= Single submitter
- p.Ser366Arg Single submitter
- p.Tyr332= Single submitter
- p.Tyr397= Single submitter
- c.1034-4G>A No assertion criteria MMP1-related disorder
- c.781+7A>G No assertion criteria MMP1-related disorder
- p.Arg262Ser No assertion criteria MMP1-related disorder
- p.Asp96Asn No assertion criteria MMP1-related disorder
Uncertain significance 78
- c.105+2T>C Single submitter MMP1-related disorder
- p.Ala128Pro Single submitter ⚠
- p.Ala133Pro Single submitter ⚠
- p.Ala335Gly Single submitter ⚠
- p.Ala81Ser Single submitter ⚠
- p.Arg165Lys Single submitter ⚠
- p.Arg169Trp Single submitter ⚠
- p.Arg262Cys Single submitter ⚠
- p.Arg262His Single submitter ⚠
- p.Arg291Gln Single submitter
- p.Arg291Trp Single submitter
- p.Arg304Ser Single submitter ⚠
- p.Arg467Ser Single submitter ⚠
- p.Asn171Lys Single submitter ⚠
- p.Asn346Thr Single submitter ⚠
- p.Asn46Thr Single submitter ⚠
- p.Asp129Tyr Single submitter ⚠
- p.Asp200Glu Single submitter ⚠
- p.Asp336Asn Single submitter ⚠
- p.Asp378Asn Single submitter ⚠
- p.Asp96Tyr Single submitter ⚠
- p.Gln29Lys Single submitter ⚠
- p.Gln66Glu Single submitter ⚠
- p.Glu333Lys Single submitter ⚠
- p.Glu339Asp Single submitter ⚠
- p.Gly221Ser Single submitter ⚠
- p.Gly271Ala Single submitter ⚠
- p.Gly327Trp Single submitter ⚠
- p.Gly359Ala Single submitter ⚠
- p.His218Pro Single submitter ⚠
- p.His228Arg Single submitter ⚠
- p.His228Asn Single submitter ⚠
- p.His358Gln Single submitter ⚠
- p.Ile253Thr Single submitter ⚠
- p.Ile259Thr Single submitter ⚠
- p.Ile270Phe Single submitter ⚠
- p.Ile364Val Single submitter ⚠
- p.Ile377Met Single submitter ⚠
- p.Ile377Val Single submitter ⚠
- p.Ile454Val Single submitter ⚠
- p.Lys40Glu Single submitter ⚠
- p.Lys432Ile Single submitter ⚠
- p.Lys446Arg Single submitter ⚠
- p.Met236Lys Single submitter ⚠
- p.Met236Thr Single submitter ⚠
- p.Met407Val Single submitter ⚠
- p.Phe138Cys Single submitter ⚠
- p.Phe391Cys Single submitter ⚠
- p.Phe438Leu Single submitter ⚠
- p.Phe447Leu Single submitter ⚠
- p.Pro126Gln Single submitter ⚠
- p.Pro187Ala Single submitter ⚠
- p.Pro449Ala Single submitter ⚠
- p.Ser227Phe Single submitter ⚠
- p.Ser229Phe Single submitter ⚠
- p.Thr103Ile Single submitter ⚠
- p.Thr122Ser Single submitter ⚠
- p.Thr148Arg Single submitter ⚠
- p.Thr204Ile Single submitter ⚠
- p.Thr288Ala Single submitter ⚠
- p.Thr289Ala Single submitter ⚠
- p.Thr289Met Single submitter ⚠
- p.Thr305Ala Single submitter ⚠
- p.Thr76Pro Single submitter ⚠
- p.Trp13Cys Single submitter ⚠
- p.Trp398Cys Single submitter ⚠
- p.Trp463Ter Single submitter
- p.Tyr210Cys Single submitter ⚠
- p.Tyr390His Single submitter ⚠
- p.Tyr437Cys Single submitter ⚠
- p.Tyr445Asn Single submitter ⚠
- p.Val130Leu Single submitter ⚠
- p.Val15Ala Single submitter ⚠
- p.Val312Ala Single submitter ⚠
- p.Val31Gly Single submitter ⚠
- p.Val34Ile Single submitter ⚠
- p.Val60Leu Single submitter ⚠
- p.Ala330fs No assertion criteria interstitial lung disease 2