MMP15 — 132 ClinVar variants

All ClinVar germline MMP15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

1 Pathogenic · 2 Benign · 5 Likely benign · 124 Uncertain significance

Full MMP15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 113

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 93

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

Predictors split 20

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

All MMP15 variants

Pathogenic 1

p.Pro353fs Single submitter Developmental disorder

Benign 2

c.1165-9C>T Multiple submitters
p.Thr320= Multiple submitters

Likely benign 5

p.Gly417Ser Single submitter
p.Phe601Ser Single submitter
p.Ser147= Single submitter
p.Val178= Single submitter
p.Val626Met Single submitter

Uncertain significance 124

p.Arg346Gln Multiple submitters ⚠
c.910_910+3delinsA Single submitter
p.Ala133Thr Single submitter ⚠
p.Ala444Val Single submitter ⚠
p.Ala49Val Single submitter ⚠
p.Ala590Thr Single submitter ⚠
p.Ala590Val Single submitter ⚠
p.Ala603Ser Single submitter ⚠
p.Ala654Gly Single submitter ⚠
p.Ala654Val Single submitter ⚠
p.Arg108Gln Single submitter ⚠
p.Arg110Ser Single submitter ⚠
p.Arg120Gln Single submitter ⚠
p.Arg126Gln Single submitter ⚠
p.Arg126Trp Single submitter ⚠
p.Arg128His Single submitter ⚠
p.Arg165His Single submitter ⚠
p.Arg166Gly Single submitter ⚠
p.Arg169Cys Single submitter ⚠
p.Arg188Gln Single submitter ⚠
p.Arg188Trp Single submitter ⚠
p.Arg28Gly Single submitter ⚠
p.Arg297Cys Single submitter ⚠
p.Arg297His Single submitter ⚠
p.Arg330Gln Single submitter ⚠
p.Arg330Trp Single submitter ⚠
p.Arg333Trp Single submitter ⚠
p.Arg346Trp Single submitter ⚠
p.Arg357Gln Single submitter ⚠
p.Arg357Ter Single submitter
p.Arg361Gln Single submitter ⚠
p.Arg361Trp Single submitter ⚠
p.Arg381His Single submitter ⚠
p.Arg390Cys Single submitter ⚠
p.Arg394Gln Single submitter ⚠
p.Arg396Trp Single submitter ⚠
p.Arg465His Single submitter ⚠
p.Arg488His Single submitter ⚠
p.Arg495Cys Single submitter ⚠
p.Arg543Gln Single submitter ⚠
p.Arg554Pro Single submitter ⚠
p.Arg568Gln Single submitter ⚠
p.Arg574Trp Single submitter ⚠
p.Arg58Gln Single submitter ⚠
p.Arg58Trp Single submitter ⚠
p.Arg622Gln Single submitter ⚠
p.Arg656Cys Single submitter
p.Arg68His Single submitter ⚠
p.Arg68Ser Single submitter ⚠
p.Arg74Cys Single submitter
p.Asn124Ser Single submitter ⚠
p.Asn445His Single submitter ⚠
p.Asn606His Single submitter ⚠
p.Asn625Lys Single submitter ⚠
p.Asp363Asn Single submitter ⚠
p.Asp371Asn Single submitter ⚠
p.Asp402Tyr Single submitter ⚠
p.Asp48Glu Single submitter ⚠
p.Asp99Asn Single submitter ⚠
p.Cys661Arg Single submitter ⚠
p.Gln192Glu Single submitter ⚠
p.Gln482Lys Single submitter ⚠
p.Gln648Arg Single submitter ⚠
p.Glu100Lys Single submitter ⚠
p.Glu293Lys Single submitter ⚠
p.Glu360Asp Single submitter ⚠
p.Glu47Ala Single submitter ⚠
p.Glu492Lys Single submitter ⚠
p.Glu564Lys Single submitter ⚠
p.Glu619Asp Single submitter ⚠
p.Gly118Arg Single submitter
p.Gly351Val Single submitter ⚠
p.Gly382Trp Single submitter ⚠
p.Gly460Asp Single submitter ⚠
p.Gly91Glu Single submitter
p.Gly9Arg Single submitter ⚠
p.His159Asn Single submitter ⚠
p.His249Gln Single submitter ⚠
p.His52Gln Single submitter ⚠
p.His52Leu Single submitter ⚠
p.Ile148Val Single submitter ⚠
p.Ile187Asn Single submitter ⚠
p.Leu33Phe Single submitter ⚠
p.Leu446Gln Single submitter
p.Leu459Pro Single submitter ⚠
p.Leu630Gln Single submitter ⚠
p.Lys193Glu Single submitter ⚠
p.Lys290Arg Single submitter ⚠
p.Lys349Asn Single submitter ⚠
p.Met73Leu Single submitter ⚠
p.Phe205Leu Single submitter ⚠
p.Phe430Val Single submitter ⚠
p.Pro11Arg Single submitter ⚠
p.Pro211Leu Single submitter
p.Pro227Ser Single submitter ⚠
p.Pro292Leu Single submitter
p.Pro306Ser Single submitter ⚠
p.Pro321Ala Single submitter ⚠
p.Pro321Leu Single submitter ⚠
p.Pro331Ser Single submitter ⚠
p.Pro332Leu Single submitter ⚠
p.Pro332Ser Single submitter ⚠
p.Pro453Leu Single submitter ⚠
p.Pro575Thr Single submitter ⚠
p.Pro576Arg Single submitter ⚠
p.Ser16Asn Single submitter ⚠
p.Ser16Thr Single submitter ⚠
p.Ser210Trp Single submitter ⚠
p.Ser3Gly Single submitter ⚠
p.Thr14Arg Single submitter ⚠
p.Thr152Met Single submitter
p.Thr175Met Single submitter ⚠
p.Thr320Met Single submitter ⚠
p.Thr468Met Single submitter ⚠
p.Thr478Ala Single submitter ⚠
p.Thr532Ala Single submitter ⚠
p.Tyr223Asp Single submitter ⚠
p.Tyr365Cys Single submitter
p.Tyr404Cys Single submitter ⚠
p.Val178Phe Single submitter ⚠
p.Val286Ala Single submitter ⚠
p.Val563Met Single submitter ⚠
p.Val572Met Single submitter ⚠
p.Val627Ala Single submitter ⚠