MMP3 — 103 ClinVar variants
All ClinVar germline MMP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
25 Benign · 12 Likely benign · 66 Uncertain significance
Full MMP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MMP3 p.Ala342Asp Uncertain significance Single submitter
- MMP3 p.Ala390Val Uncertain significance Single submitter
- MMP3 p.Ala391Thr Uncertain significance Single submitter
- MMP3 p.Ala462Gly Uncertain significance Single submitter
- MMP3 p.Arg88Leu Uncertain significance Single submitter
- MMP3 p.Asp389Asn Uncertain significance Single submitter
- MMP3 p.Asp434Tyr Uncertain significance Single submitter
- MMP3 p.Asp82Asn Uncertain significance Single submitter
- MMP3 p.Gln425Arg Uncertain significance Single submitter
- MMP3 p.Gln50Lys Uncertain significance Single submitter
- MMP3 p.Glu142Lys Uncertain significance Single submitter
- MMP3 p.Glu428Lys Uncertain significance Single submitter
- MMP3 p.Gly105Asp Uncertain significance Single submitter
- MMP3 p.Gly176Arg Uncertain significance Single submitter
- MMP3 p.Gly176Glu Uncertain significance Single submitter
- MMP3 p.Gly188Arg Uncertain significance Single submitter
- MMP3 p.Gly221Asp Uncertain significance Single submitter
- MMP3 p.Gly421Asp Uncertain significance Single submitter
- MMP3 p.Gly77Val Uncertain significance Single submitter
- MMP3 p.His222Arg Uncertain significance Single submitter
- MMP3 p.His327Leu Uncertain significance Single submitter
- MMP3 p.Ile159Thr Uncertain significance Single submitter
- MMP3 p.Ile376Phe Uncertain significance Single submitter
- MMP3 p.Leu71Val Uncertain significance Single submitter
- MMP3 p.Leu8Pro Uncertain significance Single submitter
- MMP3 p.Lys321Asn Uncertain significance Single submitter
- MMP3 p.Lys397Asn Uncertain significance Single submitter
- MMP3 p.Phe103Cys Uncertain significance Single submitter
- MMP3 p.Phe309Tyr Uncertain significance Single submitter
- MMP3 p.Phe353Ile Uncertain significance Single submitter
- MMP3 p.Phe403Leu Uncertain significance Single submitter
- MMP3 p.Pro107Leu Uncertain significance Single submitter
- MMP3 p.Pro19Ala Uncertain significance Single submitter
- MMP3 p.Pro324Ser Uncertain significance Single submitter
- MMP3 p.Thr272Asn Uncertain significance Single submitter
- MMP3 p.Thr272Ser Uncertain significance Single submitter
- MMP3 p.Trp109Gly Uncertain significance Single submitter
- MMP3 p.Trp474Arg Uncertain significance Single submitter
- MMP3 p.Tyr263Cys Uncertain significance Single submitter
- MMP3 p.Tyr448His Uncertain significance Single submitter
- MMP3 p.Val12Met Uncertain significance Single submitter
- MMP3 p.Val352Ile Uncertain significance Single submitter
- MMP3 p.Val440Ala Uncertain significance Single submitter
- MMP3 p.Val97Ala Uncertain significance Single submitter
- MMP3 p.Val97Ile Uncertain significance Single submitter
-
MMP3 p.Ala195Ser
Uncertain significance
No assertion criteria
Mendelian syndromes with cleft lip/palate
Predictors split 18
The independent predictors disagree with each other — read with care.
- MMP3 p.Ala186Asp Uncertain significance Single submitter
- MMP3 p.Arg250Cys Uncertain significance Single submitter
- MMP3 p.Arg88Cys Uncertain significance Single submitter
- MMP3 p.Gly209Ala Uncertain significance Single submitter
- MMP3 p.Gly452Val Uncertain significance Single submitter
- MMP3 p.Leu294Trp Uncertain significance Single submitter
- MMP3 p.Met160Ile Likely benign Single submitter
- MMP3 p.Met160Leu Likely benign Single submitter
- MMP3 p.Pro270Arg Uncertain significance Single submitter
- MMP3 p.Pro270Leu Uncertain significance Single submitter
- MMP3 p.Pro273Ala Uncertain significance Single submitter
- MMP3 p.Ser252Tyr Uncertain significance Single submitter
- MMP3 p.Ser300Arg Uncertain significance Single submitter
- MMP3 p.Ser330Tyr Uncertain significance Single submitter
- MMP3 p.Ser471Ile Uncertain significance Single submitter
- MMP3 p.Thr277Met Uncertain significance Single submitter
- MMP3 p.Val134Ala Uncertain significance Single submitter
- MMP3 p.Val144Met Uncertain significance Single submitter
All MMP3 variants
Benign 25
- c.106-130C>G Multiple submitters
- c.1070-81A>T Multiple submitters
- c.1333+115T>C Multiple submitters
- c.1334-348C>T Multiple submitters
- c.499+37A>G Multiple submitters
- c.500-36G>A Multiple submitters
- c.626-14A>G Multiple submitters
- c.626-257G>C Multiple submitters
- c.936-109C>T Multiple submitters
- p.Ala362= Multiple submitters
- p.Asp96= Multiple submitters
- p.Gly264= Multiple submitters
- p.Leu20= Multiple submitters
- p.Lys45Glu Multiple submitters
- p.Thr102= Multiple submitters
- p.Thr83= Multiple submitters
- c.106-188del Single submitter
- c.106-197dup Single submitter
- c.1070-22_1070-21del Single submitter
- c.499+28CAAAA[2] Single submitter
- c.499+2T>A Single submitter
- c.935+132A>T Single submitter
- p.His377= Single submitter
- p.Thr286= Single submitter
- p.Thr76= Single submitter
Likely benign 12
- p.Leu4= Multiple submitters
- p.Asp43Asn Single submitter
- p.Glu443Ala Single submitter
- p.Leu475Phe Single submitter
- p.Met160Ile Single submitter ⚠
- p.Met160Leu Single submitter ⚠
- p.Ser435= Single submitter
- p.Tyr153His Single submitter
- p.Tyr237= Single submitter
- p.Tyr42= Single submitter
- c.626-3T>C No assertion criteria MMP3-related disorder
- c.-7A>C No assertion criteria MMP3-related disorder
Uncertain significance 66
- p.Ala186Asp Single submitter ⚠
- p.Ala342Asp Single submitter ⚠
- p.Ala390Val Single submitter ⚠
- p.Ala391Thr Single submitter ⚠
- p.Ala462Gly Single submitter ⚠
- p.Arg250Cys Single submitter ⚠
- p.Arg88Cys Single submitter ⚠
- p.Arg88Leu Single submitter ⚠
- p.Asp389Asn Single submitter ⚠
- p.Asp434Tyr Single submitter ⚠
- p.Asp82Asn Single submitter ⚠
- p.Gln425Arg Single submitter ⚠
- p.Gln50Lys Single submitter ⚠
- p.Glu142Lys Single submitter ⚠
- p.Glu428Lys Single submitter ⚠
- p.Gly105Asp Single submitter ⚠
- p.Gly176Arg Single submitter ⚠
- p.Gly176Glu Single submitter ⚠
- p.Gly188Arg Single submitter ⚠
- p.Gly209Ala Single submitter ⚠
- p.Gly221Asp Single submitter ⚠
- p.Gly421Asp Single submitter ⚠
- p.Gly452Val Single submitter ⚠
- p.Gly77Val Single submitter ⚠
- p.His222Arg Single submitter ⚠
- p.His327Leu Single submitter ⚠
- p.Ile159Thr Single submitter ⚠
- p.Ile376Phe Single submitter ⚠
- p.Ile64Asn Single submitter
- p.Leu147Phe Single submitter
- p.Leu294Trp Single submitter ⚠
- p.Leu71Val Single submitter ⚠
- p.Leu8Pro Single submitter ⚠
- p.Lys321Asn Single submitter ⚠
- p.Lys397Asn Single submitter ⚠
- p.Phe103Cys Single submitter ⚠
- p.Phe309Tyr Single submitter ⚠
- p.Phe353Ile Single submitter ⚠
- p.Phe403Leu Single submitter ⚠
- p.Pro107Leu Single submitter ⚠
- p.Pro19Ala Single submitter ⚠
- p.Pro270Arg Single submitter ⚠
- p.Pro270Leu Single submitter ⚠
- p.Pro273Ala Single submitter ⚠
- p.Pro324Ser Single submitter ⚠
- p.Pro373Ala Single submitter
- p.Ser252Tyr Single submitter ⚠
- p.Ser300Arg Single submitter ⚠
- p.Ser330Tyr Single submitter ⚠
- p.Ser471Ile Single submitter ⚠
- p.Thr272Asn Single submitter ⚠
- p.Thr272Ser Single submitter ⚠
- p.Thr277Met Single submitter ⚠
- p.Trp109Gly Single submitter ⚠
- p.Trp474Arg Single submitter ⚠
- p.Tyr263Cys Single submitter ⚠
- p.Tyr344Asn Single submitter
- p.Tyr448His Single submitter ⚠
- p.Val12Met Single submitter ⚠
- p.Val134Ala Single submitter ⚠
- p.Val144Met Single submitter ⚠
- p.Val352Ile Single submitter ⚠
- p.Val440Ala Single submitter ⚠
- p.Val97Ala Single submitter ⚠
- p.Val97Ile Single submitter ⚠
- p.Ala195Ser No assertion criteria Mendelian syndromes with cleft lip/palate ⚠