MMP17 — 146 ClinVar variants

All ClinVar germline MMP17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →

4 Benign · 12 Likely benign · 130 Uncertain significance

Full MMP17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 125

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 105

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 MMP17 variants

Benign 4

p.Asn440Asp Multiple submitters
p.His248= Multiple submitters
p.Pro199= Multiple submitters
p.Pro273= Multiple submitters

Likely benign 12

p.Leu78Met Multiple submitters ⚠
p.Ala260= Single submitter
p.Ala322Thr Single submitter
p.Ala534= Single submitter
p.Ala580Thr Single submitter
p.Arg267Gln Single submitter
p.Asn195= Single submitter
p.Gln599Arg Single submitter
p.His176= Single submitter
p.His263Arg Single submitter
p.Lys191Arg Single submitter
p.Val578Leu Single submitter

Uncertain significance 130

p.Ala100Gly Single submitter ⚠
p.Ala103Val Single submitter ⚠
p.Ala129Thr Single submitter ⚠
p.Ala179Thr Single submitter ⚠
p.Ala179Val Single submitter ⚠
p.Ala210Asp Single submitter ⚠
p.Ala219Thr Single submitter ⚠
p.Ala229Asp Single submitter ⚠
p.Ala229Pro Single submitter ⚠
p.Ala253Thr Single submitter ⚠
p.Ala261Ser Single submitter ⚠
p.Ala304Glu Single submitter ⚠
p.Ala304Val Single submitter ⚠
p.Ala38Pro Single submitter ⚠
p.Ala41Ser Single submitter ⚠
p.Ala434Thr Single submitter ⚠
p.Ala43Gly Single submitter ⚠
p.Ala467Thr Single submitter ⚠
p.Ala46Pro Single submitter ⚠
p.Ala538Val Single submitter ⚠
p.Ala544Thr Single submitter ⚠
p.Ala567Thr Single submitter ⚠
p.Ala573Thr Single submitter ⚠
p.Ala6Gly Single submitter ⚠
p.Ala81Ser Single submitter ⚠
p.Arg109His Single submitter ⚠
p.Arg125Cys Single submitter ⚠
p.Arg125His Single submitter ⚠
p.Arg143Gln Single submitter ⚠
p.Arg143Trp Single submitter ⚠
p.Arg233Cys Single submitter
p.Arg233His Single submitter ⚠
p.Arg267Trp Single submitter ⚠
p.Arg279Cys Single submitter ⚠
p.Arg297Trp Single submitter
p.Arg319Trp Single submitter ⚠
p.Arg343Gln Single submitter ⚠
p.Arg34Leu Single submitter ⚠
p.Arg359Gln Single submitter ⚠
p.Arg359Trp Single submitter ⚠
p.Arg361Gln Single submitter ⚠
p.Arg391Cys Single submitter ⚠
p.Arg419His Single submitter ⚠
p.Arg453His Single submitter ⚠
p.Arg453Ser Single submitter ⚠
p.Arg45Pro Single submitter ⚠
p.Arg484Cys Single submitter ⚠
p.Arg484His Single submitter ⚠
p.Arg494Cys Single submitter ⚠
p.Arg518Leu Single submitter ⚠
p.Arg553Leu Single submitter ⚠
p.Arg58Ser Single submitter ⚠
p.Arg7Trp Single submitter ⚠
p.Asn134Asp Single submitter ⚠
p.Asp154Asn Single submitter ⚠
p.Asp188Asn Single submitter ⚠
p.Asp201Asn Single submitter ⚠
p.Asp201Glu Single submitter ⚠
p.Asp221Ala Single submitter
p.Asp225Val Single submitter ⚠
p.Asp360Ala Single submitter ⚠
p.Asp394Asn Single submitter
p.Asp410Asn Single submitter ⚠
p.Asp432Asn Single submitter ⚠
p.Asp462Glu Single submitter ⚠
p.Asp487Glu Single submitter ⚠
p.Cys110Ser Single submitter ⚠
p.Gln186Glu Single submitter ⚠
p.Gln86Glu Single submitter ⚠
p.Glu177Lys Single submitter ⚠
p.Glu249Lys Single submitter ⚠
p.Glu307Lys Single submitter ⚠
p.Glu505Lys Single submitter ⚠
p.Glu559Lys Single submitter ⚠
p.Glu76Asp Single submitter ⚠
p.Glu92Asp Single submitter ⚠
p.Glu99Lys Single submitter ⚠
p.Gly197Ser Single submitter ⚠
p.Gly205Ser Single submitter ⚠
p.Gly220Arg Single submitter ⚠
p.Gly239Arg Single submitter ⚠
p.Gly281Arg Single submitter ⚠
p.Gly35Glu Single submitter ⚠
p.Gly430Ser Single submitter ⚠
p.Gly557Ser Single submitter ⚠
p.Gly60Arg Single submitter ⚠
p.Gly95Ser Single submitter ⚠
p.His549Gln Single submitter ⚠
p.Ile170Leu Single submitter ⚠
p.Ile170Ser Single submitter ⚠
p.Ile397Met Single submitter ⚠
p.Leu138Pro Single submitter ⚠
p.Leu138Val Single submitter ⚠
p.Leu164Phe Single submitter ⚠
p.Leu26Pro Single submitter ⚠
p.Leu27Pro Single submitter ⚠
p.Lys106Glu Single submitter ⚠
p.Met461Val Single submitter ⚠
p.Phe347Leu Single submitter ⚠
p.Pro116Leu Single submitter ⚠
p.Pro268Leu Single submitter ⚠
p.Pro268Ser Single submitter ⚠
p.Pro313Leu Single submitter ⚠
p.Pro368Leu Single submitter ⚠
p.Pro546Ser Single submitter ⚠
p.Pro570Thr Single submitter ⚠
p.Pro64Ala Single submitter ⚠
p.Pro9Ala Single submitter ⚠
p.Pro9His Single submitter ⚠
p.Ser301Phe Single submitter ⚠
p.Ser554Leu Single submitter ⚠
p.Thr119Ile Single submitter ⚠
p.Thr155Met Single submitter ⚠
p.Thr155Ser Single submitter ⚠
p.Thr206Ile Single submitter ⚠
p.Thr303Ala Single submitter ⚠
p.Thr303Lys Single submitter ⚠
p.Thr358Ala Single submitter ⚠
p.Thr358Met Single submitter ⚠
p.Thr596Ile Single submitter ⚠
p.Thr602Met Single submitter ⚠
p.Thr74Ala Single submitter ⚠
p.Thr74Lys Single submitter
p.Thr74Met Single submitter ⚠
p.Trp133Arg Single submitter ⚠
p.Val166Ile Single submitter ⚠
p.Val178Met Single submitter
p.Val207Met Single submitter ⚠
p.Val413Ile Single submitter ⚠
p.Val53Met Single submitter ⚠