MMP10 — 83 ClinVar variants

All ClinVar germline MMP10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

1 Conflicting · 3 Benign · 5 Likely benign · 74 Uncertain significance

Full MMP10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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.

MMP10 p.Met105Lys Conflicting Single submitter

Predictors lean, ClinVar uncertain 51

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 17

The independent predictors disagree with each other — read with care.

All MMP10 variants

Conflicting classifications of pathogenicity 1

p.Met105Lys Single submitter ⚠

Benign 3

p.Leu4Val Multiple submitters
c.497-2A>G Single submitter
p.Arg316= Single submitter

Likely benign 5

p.Tyr400Ter Multiple submitters
p.Ala390Ser Single submitter
p.Arg87His Single submitter
p.Phe402Leu Single submitter ⚠
p.Pro272= Single submitter

Uncertain significance 74

p.Ala215Val Single submitter ⚠
p.Ala297Thr Single submitter ⚠
p.Ala341Val Single submitter ⚠
p.Arg126Lys Single submitter ⚠
p.Arg150Trp Single submitter ⚠
p.Arg249His Single submitter ⚠
p.Arg87Leu Single submitter ⚠
p.Asn119Asp Single submitter ⚠
p.Asn365Lys Single submitter ⚠
p.Asn43Ser Single submitter ⚠
p.Asp123Asn Single submitter ⚠
p.Asp169Gly Single submitter ⚠
p.Asp193Gly Single submitter
p.Asp254Glu Single submitter ⚠
p.Asp28Glu Single submitter ⚠
p.Asp405Tyr Single submitter ⚠
p.Asp437Val Single submitter
p.Asp47Asn Single submitter ⚠
p.Cys11Tyr Single submitter ⚠
p.Cys476Arg Single submitter ⚠
p.Glu134Lys Single submitter ⚠
p.Glu200Lys Single submitter ⚠
p.Glu304Lys Single submitter
p.Gly168Glu Single submitter ⚠
p.Gly177Arg Single submitter ⚠
p.Gly22Arg Single submitter ⚠
p.Gly364Arg Single submitter ⚠
p.Gly71Val Single submitter
p.His167Arg Single submitter ⚠
p.Ile133Thr Single submitter ⚠
p.Ile133Val Single submitter ⚠
p.Ile158Thr Single submitter ⚠
p.Ile258Ser Single submitter ⚠
p.Ile375Phe Single submitter ⚠
p.Leu146Phe Single submitter
p.Leu180Phe Single submitter ⚠
p.Leu327Ser Single submitter ⚠
p.Leu440Val Single submitter ⚠
p.Leu70Phe Single submitter ⚠
p.Lys135Arg Single submitter ⚠
p.Lys165Glu Single submitter ⚠
p.Met235Ile Single submitter ⚠
p.Met417Val Single submitter ⚠
p.Met463Ile Single submitter ⚠
p.Phe170Ser Single submitter ⚠
p.Phe226Ile Single submitter ⚠
p.Phe429Ser Single submitter ⚠
p.Phe443Leu Single submitter ⚠
p.Phe448Ser Single submitter ⚠
p.Pro185Thr Single submitter ⚠
p.Pro266Leu Single submitter ⚠
p.Pro272Ser Single submitter ⚠
p.Pro275Ala Single submitter ⚠
p.Pro459Ser Single submitter ⚠
p.Ser100Gly Single submitter ⚠
p.Ser161Ala Single submitter ⚠
p.Ser222Pro Single submitter ⚠
p.Ser317Phe Single submitter ⚠
p.Ser452Pro Single submitter ⚠
p.Thr377Ile Single submitter ⚠
p.Thr383Ala Single submitter ⚠
p.Thr82Ala Single submitter
p.Tyr18Cys Single submitter ⚠
p.Tyr42Cys Single submitter ⚠
p.Val129Phe Single submitter ⚠
p.Val14Ala Single submitter ⚠
p.Val214Ile Single submitter ⚠
p.Val255Met Single submitter ⚠
p.Val351Ala Single submitter ⚠
p.Val351Gly Single submitter ⚠
p.Val436Ile Single submitter ⚠
p.Val464Met Single submitter ⚠
p.Val8Ala Single submitter ⚠
p.Cys11fs No assertion criteria essential tremor