TIMP3 — 291 ClinVar variants
All ClinVar germline TIMP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →
6 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 13 Conflicting · 35 Benign · 6 Benign/Likely benign · 77 Likely benign · 147 Uncertain significance
Full TIMP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 88
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TIMP3 p.Leu11Pro
Likely pathogenic
Single submitter
TIMP3-related disorder
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- TIMP3 p.Asn37Ser Conflicting Single submitter
-
TIMP3 p.Glu162Lys
Conflicting
Single submitter
TIMP3-related disorder
-
TIMP3 p.Leu10His
Conflicting
Single submitter
TIMP3-related disorder
-
TIMP3 p.Ser149Cys
Conflicting
Single submitter
TIMP3-related disorder
-
TIMP3 p.Tyr137Cys
Conflicting
Single submitter
inherited retinal dystrophy
Predictors lean, ClinVar uncertain 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TIMP3 p.Arg186Gln Uncertain significance Multiple submitters
- TIMP3 p.Gly173Ser Uncertain significance Multiple submitters
- TIMP3 p.His78Gln Uncertain significance Multiple submitters
- TIMP3 p.Met113Ile Uncertain significance Multiple submitters
- TIMP3 p.Pro154Leu Uncertain significance Multiple submitters
- TIMP3 p.Pro200Ala Uncertain significance Multiple submitters
- TIMP3 p.Pro3Ser Uncertain significance Multiple submitters
- TIMP3 p.Val9Met Uncertain significance Multiple submitters
- TIMP3 p.Ala183Thr Uncertain significance Single submitter
- TIMP3 p.Ala183Val Uncertain significance Single submitter
- TIMP3 p.Ala199Pro Uncertain significance Single submitter
- TIMP3 p.Ala199Val Uncertain significance Single submitter
- TIMP3 p.Arg107Cys Uncertain significance Single submitter
- TIMP3 p.Arg123Lys Uncertain significance Single submitter
-
TIMP3 p.Arg132Cys
Uncertain significance
Single submitter
inherited retinal dystrophy
- TIMP3 p.Arg43Gln Uncertain significance Single submitter
- TIMP3 p.Arg43Trp Uncertain significance Single submitter
- TIMP3 p.Asp167His Uncertain significance Single submitter
- TIMP3 p.Asp167Tyr Uncertain significance Single submitter
- TIMP3 p.Asp18Gly Uncertain significance Single submitter
- TIMP3 p.Asp18Tyr Uncertain significance Single submitter
- TIMP3 p.Cys163Tyr Uncertain significance Single submitter
- TIMP3 p.Cys24Arg Uncertain significance Single submitter
- TIMP3 p.Cys24Gly Uncertain significance Single submitter
- TIMP3 p.Cys24Phe Uncertain significance Single submitter
- TIMP3 p.Cys91Arg Uncertain significance Single submitter
- TIMP3 p.Gln131Arg Uncertain significance Single submitter
- TIMP3 p.Glu162Gln Uncertain significance Single submitter
- TIMP3 p.Gly55Arg Uncertain significance Single submitter
- TIMP3 p.His78Asp Uncertain significance Single submitter
- TIMP3 p.Ile206Val Uncertain significance Single submitter
- TIMP3 p.Ile40Val Uncertain significance Single submitter
- TIMP3 p.Ile82Val Uncertain significance Single submitter
- TIMP3 p.Leu10Phe Uncertain significance Single submitter
- TIMP3 p.Leu11Arg Uncertain significance Single submitter
- TIMP3 p.Leu5Phe Uncertain significance Single submitter
- TIMP3 p.Met168Val Uncertain significance Single submitter
- TIMP3 p.Phe172Tyr Uncertain significance Single submitter
- TIMP3 p.Pro201Leu Uncertain significance Single submitter
- TIMP3 p.Pro31Ala Uncertain significance Single submitter
- TIMP3 p.Ser15Ile Uncertain significance Single submitter
- TIMP3 p.Ser89Cys Uncertain significance Single submitter
- TIMP3 p.Thr84Arg Uncertain significance Single submitter
- TIMP3 p.Trp4Ser Uncertain significance Single submitter
- TIMP3 p.Tyr109His Uncertain significance Single submitter
-
TIMP3 p.Tyr151Cys
Uncertain significance
Single submitter
inherited retinal dystrophy
- TIMP3 p.Tyr70Cys Uncertain significance Single submitter
- TIMP3 p.Val108Ile Uncertain significance Single submitter
- TIMP3 p.Val108Leu Uncertain significance Single submitter
- TIMP3 p.Val41Leu Uncertain significance Single submitter
- TIMP3 p.Val52Ile Uncertain significance Single submitter
- TIMP3 p.Val79Met Uncertain significance Single submitter
-
TIMP3 p.Pro31Arg
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 29
The independent predictors disagree with each other — read with care.
- TIMP3 p.Arg186Trp Uncertain significance Multiple submitters
-
TIMP3 p.Asp167Asn
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- TIMP3 p.Leu16Pro Uncertain significance Multiple submitters
-
TIMP3 p.Phe57Leu
Uncertain significance
Multiple submitters
Sorsby fundus dystrophy
-
TIMP3 p.Ser204Cys
Pathogenic
Multiple submitters
TIMP3-related disorder
- TIMP3 p.Thr115Met Uncertain significance Multiple submitters
- TIMP3 p.Thr59Met Uncertain significance Multiple submitters
- TIMP3 p.Tyr182His Uncertain significance Multiple submitters
-
TIMP3 p.Tyr191Cys
Pathogenic
Multiple submitters
TIMP3-related disorder
- TIMP3 p.Arg138Gln Uncertain significance Single submitter
-
TIMP3 p.Arg196Gln
Conflicting
Single submitter
Sorsby fundus dystrophy
- TIMP3 p.Asp167Ala Uncertain significance Single submitter
- TIMP3 p.Asp202Val Uncertain significance Single submitter
- TIMP3 p.Asp33His Uncertain significance Single submitter
- TIMP3 p.Gln178His Uncertain significance Single submitter
- TIMP3 p.Gly190Ser Uncertain significance Single submitter
- TIMP3 p.His181Arg Pathogenic Single submitter
- TIMP3 p.His78Arg Uncertain significance Single submitter
- TIMP3 p.Ile40Met Uncertain significance Single submitter
- TIMP3 p.Leu129Pro Uncertain significance Single submitter
- TIMP3 p.Lys75Asn Uncertain significance Single submitter
- TIMP3 p.Met168Thr Uncertain significance Single submitter
- TIMP3 p.Pro28Ser Uncertain significance Single submitter
- TIMP3 p.Pro56Ser Uncertain significance Single submitter
-
TIMP3 p.Ser170Cys
Uncertain significance
Single submitter
Sorsby fundus dystrophy
- TIMP3 p.Thr63Ala Conflicting Single submitter
-
TIMP3 p.Tyr177Cys
Pathogenic
Single submitter
inherited retinal dystrophy
-
TIMP3 p.Tyr182Cys
Pathogenic
Single submitter
inherited retinal dystrophy
- TIMP3 p.Val79Ala Uncertain significance Single submitter
All TIMP3 variants
Pathogenic 6
- p.Ser204Cys Multiple submitters TIMP3-related disorder ⚠
- p.Tyr191Cys Multiple submitters TIMP3-related disorder ⚠
- p.His181Arg Single submitter ⚠
- p.Ser179Cys Single submitter inherited retinal dystrophy
- p.Tyr177Cys Single submitter inherited retinal dystrophy ⚠
- p.Tyr182Cys Single submitter inherited retinal dystrophy ⚠
Pathogenic/Likely pathogenic 2
- p.Gly12Arg Multiple submitters TIMP3-related disorder
- p.Ser38Cys Multiple submitters TIMP3-related disorder
Likely pathogenic 5
- p.Cys163Ter Single submitter retinal disorder
- p.Gly189Cys Single submitter Sorsby fundus dystrophy
- p.Leu104Pro Single submitter arteriovenous malformations of the brain
- p.Leu11Pro Single submitter TIMP3-related disorder ⚠
- p.Tyr195Cys Single submitter
Conflicting classifications of pathogenicity 13
- c.316+5T>C Single submitter
- p.Arg107= Single submitter Sorsby fundus dystrophy
- p.Arg196Gln Single submitter Sorsby fundus dystrophy ⚠
- p.Asn37Ser Single submitter ⚠
- p.Asp202fs Single submitter Sorsby fundus dystrophy
- p.Glu162Lys Single submitter TIMP3-related disorder ⚠
- p.Glu85= Single submitter
- p.Leu10His Single submitter TIMP3-related disorder ⚠
- p.Leu153= Single submitter
- p.Phe172= Single submitter Sorsby fundus dystrophy
- p.Ser149Cys Single submitter TIMP3-related disorder ⚠
- p.Thr63Ala Single submitter ⚠
- p.Tyr137Cys Single submitter inherited retinal dystrophy ⚠
Benign 35
- c.-117G>A Multiple submitters Sorsby fundus dystrophy
- c.*1900C>T Multiple submitters Sorsby fundus dystrophy
- c.*1958T>C Multiple submitters Sorsby fundus dystrophy
- c.*2103C>T Multiple submitters Sorsby fundus dystrophy
- c.*2544G>A Multiple submitters Sorsby fundus dystrophy
- c.*2651T>C Multiple submitters Sorsby fundus dystrophy
- c.*2686C>T Multiple submitters Sorsby fundus dystrophy
- c.*2853G>A Multiple submitters Sorsby fundus dystrophy
- c.*2924T>C Multiple submitters Sorsby fundus dystrophy
- c.*3413C>T Multiple submitters Sorsby fundus dystrophy
- c.*538G>T Multiple submitters Sorsby fundus dystrophy
- p.His83= Multiple submitters Sorsby fundus dystrophy
- c.438+158T>A Single submitter
- c.-471C>A Single submitter Sorsby fundus dystrophy
- c.-533G>A Single submitter Sorsby fundus dystrophy
- c.-898T>A Single submitter Sorsby fundus dystrophy
- c.-914A>G Single submitter Sorsby fundus dystrophy
- c.*1242G>A Single submitter Sorsby fundus dystrophy
- c.*1495G>A Single submitter Sorsby fundus dystrophy
- c.*1717A>G Single submitter Sorsby fundus dystrophy
- c.*2033G>T Single submitter Sorsby fundus dystrophy
- c.*2122C>G Single submitter Sorsby fundus dystrophy
- c.*2188C>T Single submitter Sorsby fundus dystrophy
- c.*2313C>A Single submitter Sorsby fundus dystrophy
- c.*2356C>T Single submitter Sorsby fundus dystrophy
- c.*2413G>T Single submitter Sorsby fundus dystrophy
- c.*2668T>C Single submitter Sorsby fundus dystrophy
- c.*3010G>A Single submitter Sorsby fundus dystrophy
- c.*3028G>A Single submitter Sorsby fundus dystrophy
- c.*3084T>C Single submitter Sorsby fundus dystrophy
- c.*3157T>C Single submitter Sorsby fundus dystrophy
- c.*3282C>T Single submitter Sorsby fundus dystrophy
- c.*3482C>T Single submitter Sorsby fundus dystrophy
- c.*615C>T Single submitter Sorsby fundus dystrophy
- p.Glu22Gln Single submitter
Benign/Likely benign 6
- c.439-12A>G Multiple submitters Sorsby fundus dystrophy
- p.Gly17= Multiple submitters
- p.Gly173= Multiple submitters
- p.Gly189= Multiple submitters
- p.Phe120= Multiple submitters
- p.Val97Ile Multiple submitters Sorsby fundus dystrophy
Likely benign 77
- c.205-14C>T Multiple submitters
- c.205-16T>A Multiple submitters
- c.316+12C>T Multiple submitters
- c.317-18T>C Multiple submitters
- c.438+19G>T Multiple submitters
- c.438+20G>A Multiple submitters
- p.Ala199= Multiple submitters
- p.Arg43= Multiple submitters
- p.Asn161= Multiple submitters
- p.Gly6= Multiple submitters
- p.Gly72= Multiple submitters
- p.Leu5= Multiple submitters
- p.Phe57= Multiple submitters
- p.Pro31= Multiple submitters
- p.Thr115= Multiple submitters
- p.Thr25= Multiple submitters
- p.Thr59= Multiple submitters
- p.Thr84= Multiple submitters
- p.Tyr191= Multiple submitters
- p.Val121Met Multiple submitters
- c.121+22_121+25del Single submitter
- c.121+8C>T Single submitter
- c.122-13_122-11del Single submitter
- c.122-19T>A Single submitter
- c.122-20G>A Single submitter
- c.204+14T>C Single submitter
- c.204+18C>T Single submitter
- c.204+9T>C Single submitter
- c.205-14C>G Single submitter
- c.205-4A>G Single submitter
- c.316+14C>T Single submitter
- c.317-10C>T Single submitter
- c.317-14_317-12del Single submitter
- c.317-14C>A Single submitter
- c.438+19G>A Single submitter
- c.438+9T>C Single submitter
- c.-898T>C Single submitter Sorsby fundus dystrophy
- c.*2820G>A Single submitter Sorsby fundus dystrophy
- c.*2C>T Single submitter
- p.Ala34= Single submitter
- p.Ala44= Single submitter
- p.Arg132= Single submitter
- p.Arg186= Single submitter
- p.Asp110= Single submitter
- p.Asp125= Single submitter
- p.Asp167= Single submitter
- p.Cys143= Single submitter
- p.Cys184= Single submitter
- p.Cys192= Single submitter
- p.Gln101= Single submitter
- p.Gly92= Single submitter
- p.His78= Single submitter
- p.Ile205= Single submitter Sorsby fundus dystrophy
- p.Ile42= Single submitter
- p.Ile8= Single submitter
- p.Ile82= Single submitter
- p.Ile8Val Single submitter
- p.Leu103= Single submitter
- p.Leu117= Single submitter
- p.Leu129= Single submitter
- p.Leu141= Single submitter
- p.Leu169= Single submitter
- p.Leu7= Single submitter
- p.Leu95= Single submitter
- p.Pro201= Single submitter
- p.Ser130= Single submitter
- p.Ser15= Single submitter
- p.Ser38= Single submitter
- p.Ser87= Single submitter
- p.Thr166= Single submitter
- p.Thr2= Single submitter
- p.Tyr102= Single submitter
- p.Tyr174= Single submitter
- p.Tyr177= Single submitter
- p.Tyr182= Single submitter
- p.Val157= Single submitter
- p.Val46= Single submitter
Uncertain significance 147
- p.Arg186Gln Multiple submitters ⚠
- p.Arg186Trp Multiple submitters ⚠
- p.Asp167Asn Multiple submitters inherited retinal dystrophy ⚠
- p.Cys192Ter Multiple submitters
- p.Gly173Ser Multiple submitters ⚠
- p.Gly58Ser Multiple submitters
- p.His181Gln Multiple submitters
- p.His78Gln Multiple submitters ⚠
- p.Leu16Pro Multiple submitters ⚠
- p.Lys146= Multiple submitters
- p.Met113Ile Multiple submitters ⚠
- p.Phe57Leu Multiple submitters Sorsby fundus dystrophy ⚠
- p.Pro154Leu Multiple submitters ⚠
- p.Pro200Ala Multiple submitters ⚠
- p.Pro3Ser Multiple submitters ⚠
- p.Thr115Met Multiple submitters ⚠
- p.Thr59Met Multiple submitters ⚠
- p.Tyr152delinsCysAsn Multiple submitters Sorsby fundus dystrophy
- p.Tyr182His Multiple submitters ⚠
- p.Val9Met Multiple submitters ⚠
- c.121+4A>G Single submitter Sorsby fundus dystrophy
- c.439-12A>T Single submitter Sorsby fundus dystrophy
- c.-105G>C Single submitter Sorsby fundus dystrophy
- c.-1082C>G Single submitter Sorsby fundus dystrophy
- c.-1136G>C Single submitter Sorsby fundus dystrophy
- c.-1171G>A Single submitter Sorsby fundus dystrophy
- c.-270G>T Single submitter Sorsby fundus dystrophy
- c.-274G>C Single submitter Sorsby fundus dystrophy
- c.-284G>C Single submitter Sorsby fundus dystrophy
- c.-304G>A Single submitter Sorsby fundus dystrophy
- c.-330C>T Single submitter Sorsby fundus dystrophy
- c.-390C>A Single submitter Sorsby fundus dystrophy
- c.-407G>A Single submitter Sorsby fundus dystrophy
- c.-433C>T Single submitter Sorsby fundus dystrophy
- c.-488C>T Single submitter Sorsby fundus dystrophy
- c.-557A>C Single submitter Sorsby fundus dystrophy
- c.-684T>C Single submitter Sorsby fundus dystrophy
- c.-760G>A Single submitter Sorsby fundus dystrophy
- c.*105C>A Single submitter Sorsby fundus dystrophy
- c.*1115C>T Single submitter Sorsby fundus dystrophy
- c.*1179T>C Single submitter Sorsby fundus dystrophy
- c.*1188C>T Single submitter Sorsby fundus dystrophy
- c.*1297T>C Single submitter Sorsby fundus dystrophy
- c.*1504G>A Single submitter Sorsby fundus dystrophy
- c.*1681T>C Single submitter Sorsby fundus dystrophy
- c.*1783A>G Single submitter Sorsby fundus dystrophy
- c.*1792A>G Single submitter Sorsby fundus dystrophy
- c.*1796G>A Single submitter Sorsby fundus dystrophy
- c.*1802A>G Single submitter Sorsby fundus dystrophy
- c.*1841C>A Single submitter Sorsby fundus dystrophy
- c.*1929A>G Single submitter Sorsby fundus dystrophy
- c.*1935G>A Single submitter Sorsby fundus dystrophy
- c.*1957A>G Single submitter Sorsby fundus dystrophy
- c.*2014C>A Single submitter Sorsby fundus dystrophy
- c.*2152G>T Single submitter Sorsby fundus dystrophy
- c.*2280T>C Single submitter Sorsby fundus dystrophy
- c.*2314C>T Single submitter Sorsby fundus dystrophy
- c.*232T>C Single submitter Sorsby fundus dystrophy
- c.*2424G>A Single submitter Sorsby fundus dystrophy
- c.*2519T>G Single submitter Sorsby fundus dystrophy
- c.*2566C>T Single submitter Sorsby fundus dystrophy
- c.*2698A>G Single submitter Sorsby fundus dystrophy
- c.*2763C>T Single submitter Sorsby fundus dystrophy
- c.*2817T>C Single submitter Sorsby fundus dystrophy
- c.*2844C>T Single submitter Sorsby fundus dystrophy
- c.*2943C>T Single submitter Sorsby fundus dystrophy
- c.*3127T>C Single submitter Sorsby fundus dystrophy
- c.*320G>T Single submitter Sorsby fundus dystrophy
- c.*3221A>G Single submitter Sorsby fundus dystrophy
- c.*3233T>A Single submitter Sorsby fundus dystrophy
- c.*3246G>A Single submitter Sorsby fundus dystrophy
- c.*3521C>T Single submitter Sorsby fundus dystrophy
- c.*506G>A Single submitter Sorsby fundus dystrophy
- c.*529G>A Single submitter Sorsby fundus dystrophy
- c.*541T>A Single submitter Sorsby fundus dystrophy
- c.*541T>C Single submitter Sorsby fundus dystrophy
- c.*690C>G Single submitter Sorsby fundus dystrophy
- c.*795A>G Single submitter Sorsby fundus dystrophy
- c.*854G>A Single submitter Sorsby fundus dystrophy
- c.*87T>C Single submitter Sorsby fundus dystrophy
- c.*930T>C Single submitter Sorsby fundus dystrophy
- c.*990G>A Single submitter Sorsby fundus dystrophy
- p.Ala183Thr Single submitter ⚠
- p.Ala183Val Single submitter ⚠
- p.Ala199Pro Single submitter ⚠
- p.Ala199Val Single submitter ⚠
- p.Arg107Cys Single submitter ⚠
- p.Arg123Lys Single submitter ⚠
- p.Arg132Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg138Gln Single submitter ⚠
- p.Arg196Ter Single submitter
- p.Arg43Gln Single submitter ⚠
- p.Arg43Trp Single submitter ⚠
- p.Asp167Ala Single submitter ⚠
- p.Asp167His Single submitter ⚠
- p.Asp167Tyr Single submitter ⚠
- p.Asp18Gly Single submitter ⚠
- p.Asp18Tyr Single submitter ⚠
- p.Asp202Val Single submitter ⚠
- p.Asp33His Single submitter ⚠
- p.Cys163Tyr Single submitter ⚠
- p.Cys24Arg Single submitter ⚠
- p.Cys24Gly Single submitter ⚠
- p.Cys24Phe Single submitter ⚠
- p.Cys91Arg Single submitter ⚠
- p.Gln131Arg Single submitter ⚠
- p.Gln178His Single submitter ⚠
- p.Glu162Gln Single submitter ⚠
- p.Glu162Ter Single submitter Sorsby fundus dystrophy
- p.Gly190Ser Single submitter ⚠
- p.Gly55Arg Single submitter ⚠
- p.His78Arg Single submitter ⚠
- p.His78Asp Single submitter ⚠
- p.Ile206Val Single submitter ⚠
- p.Ile40Met Single submitter ⚠
- p.Ile40Val Single submitter ⚠
- p.Ile82Val Single submitter ⚠
- p.Leu10Phe Single submitter ⚠
- p.Leu11Arg Single submitter ⚠
- p.Leu129Pro Single submitter ⚠
- p.Leu5Phe Single submitter ⚠
- p.Lys75Asn Single submitter ⚠
- p.Met168Thr Single submitter ⚠
- p.Met168Val Single submitter ⚠
- p.Phe172Tyr Single submitter ⚠
- p.Pro175Phe Single submitter
- p.Pro201Leu Single submitter ⚠
- p.Pro28Ser Single submitter ⚠
- p.Pro31Ala Single submitter ⚠
- p.Pro56Ser Single submitter ⚠
- p.Ser15Ile Single submitter ⚠
- p.Ser170Cys Single submitter Sorsby fundus dystrophy ⚠
- p.Ser29Cys Single submitter
- p.Ser89Cys Single submitter ⚠
- p.Thr84Arg Single submitter ⚠
- p.Trp198Ter Single submitter
- p.Trp4Ser Single submitter ⚠
- p.Tyr109His Single submitter ⚠
- p.Tyr151Cys Single submitter inherited retinal dystrophy ⚠
- p.Tyr70Cys Single submitter ⚠
- p.Val108Ile Single submitter ⚠
- p.Val108Leu Single submitter ⚠
- p.Val41Leu Single submitter ⚠
- p.Val52Ile Single submitter ⚠
- p.Val79Ala Single submitter ⚠
- p.Val79Met Single submitter ⚠
- p.Pro31Arg No assertion criteria inherited retinal dystrophy ⚠