ADAMTS1 — 151 ClinVar variants

All ClinVar germline ADAMTS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →

1 Likely pathogenic · 12 Benign · 15 Likely benign · 123 Uncertain significance

Full ADAMTS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 129

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.

ADAMTS1 p.Ser435Tyr Likely pathogenic Single submitter
primary ovarian failure

Predictors lean, ClinVar uncertain 71

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

Predictors split 57

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

All ADAMTS1 variants

Likely pathogenic 1

p.Ser435Tyr Single submitter primary ovarian failure ⚠

Benign 12

c.1853-10C>G Multiple submitters
p.Arg383= Multiple submitters
p.Arg486= Multiple submitters
p.Glu631Lys Multiple submitters
p.Leu161= Multiple submitters
p.Thr776= Multiple submitters
c.1077+7G>A Single submitter
c.1078-9dup Single submitter
p.Ala529= Single submitter
p.Arg812Cys Single submitter ⚠
p.Pro467Ala Single submitter ⚠
p.Thr822= Single submitter

Likely benign 15

p.Arg756Gln Multiple submitters ⚠
p.Asp782Gly Multiple submitters ⚠
p.Gly576Ser Multiple submitters ⚠
c.730+7G>T Single submitter
p.Asp501= Single submitter
p.Asp82Gly Single submitter
p.Glu154= Single submitter
p.His938Arg Single submitter
p.Ile646Thr Single submitter
p.Lys279= Single submitter
p.Pro207Leu Single submitter
p.Pro567= Single submitter
p.Ser481Leu Single submitter
p.Thr491Ile Single submitter
p.Val652Ile Single submitter

Uncertain significance 123

p.Ala211Val Single submitter ⚠
p.Ala21Thr Single submitter ⚠
p.Ala431Val Single submitter ⚠
p.Ala628Thr Single submitter ⚠
p.Ala642Val Single submitter ⚠
p.Ala806Glu Single submitter ⚠
p.Ala806Val Single submitter ⚠
p.Ala905Val Single submitter ⚠
p.Arg12His Single submitter ⚠
p.Arg188Leu Single submitter ⚠
p.Arg190Leu Single submitter ⚠
p.Arg23Gln Single submitter ⚠
p.Arg345Gln Single submitter ⚠
p.Arg3Gln Single submitter ⚠
p.Arg486Gln Single submitter ⚠
p.Arg756Trp Single submitter ⚠
p.Arg77His Single submitter ⚠
p.Arg812His Single submitter ⚠
p.Arg833Gln Single submitter ⚠
p.Arg882Gln Single submitter ⚠
p.Asn104Lys Single submitter ⚠
p.Asn130Asp Single submitter ⚠
p.Asn130Lys Single submitter ⚠
p.Asn617Lys Single submitter ⚠
p.Asn720Ser Single submitter ⚠
p.Asp119His Single submitter ⚠
p.Asp193Glu Single submitter ⚠
p.Asp202Glu Single submitter ⚠
p.Asp267Glu Single submitter ⚠
p.Asp476Gly Single submitter ⚠
p.Asp483Asn Single submitter ⚠
p.Asp48Glu Single submitter ⚠
p.Asp570Gly Single submitter ⚠
p.Asp612Asn Single submitter ⚠
p.Asp706Gly Single submitter ⚠
p.Asp86Asn Single submitter ⚠
p.Cys892Arg Single submitter ⚠
p.Gln758Lys Single submitter ⚠
p.Glu204Lys Single submitter ⚠
p.Glu315Lys Single submitter ⚠
p.Glu623Gln Single submitter ⚠
p.Glu64Gln Single submitter ⚠
p.Glu752Lys Single submitter ⚠
p.Glu7Gln Single submitter ⚠
p.Glu865Gln Single submitter ⚠
p.Glu871Ala Single submitter ⚠
p.Glu946Val Single submitter ⚠
p.Gly196Ser Single submitter ⚠
p.Gly226Arg Single submitter ⚠
p.Gly275Arg Single submitter ⚠
p.Gly275Asp Single submitter ⚠
p.Gly422Val Single submitter ⚠
p.Gly458Cys Single submitter ⚠
p.Gly513Ser Single submitter ⚠
p.Gly51Arg Single submitter ⚠
p.Gly694Glu Single submitter ⚠
p.Gly72Arg Single submitter ⚠
p.Gly796Val Single submitter ⚠
p.Gly803Asp Single submitter ⚠
p.Gly864Asp Single submitter ⚠
p.His313Arg Single submitter ⚠
p.His559Leu Single submitter ⚠
p.His945Pro Single submitter ⚠
p.Ile248Leu Single submitter ⚠
p.Ile248Thr Single submitter ⚠
p.Ile388Thr Single submitter ⚠
p.Ile388Val Single submitter ⚠
p.Ile451Thr Single submitter ⚠
p.Ile471Val Single submitter ⚠
p.Ile792Val Single submitter ⚠
p.Leu120Pro Single submitter ⚠
p.Leu610Val Single submitter ⚠
p.Leu65Pro Single submitter ⚠
p.Leu943Val Single submitter ⚠
p.Lys13Asn Single submitter ⚠
p.Lys308Asn Single submitter ⚠
p.Lys538Asn Single submitter ⚠
p.Lys544Asn Single submitter ⚠
p.Lys771Arg Single submitter ⚠
p.Lys894Glu Single submitter ⚠
p.Lys926Thr Single submitter ⚠
p.Met270Thr Single submitter ⚠
p.Phe149Leu Single submitter ⚠
p.Phe490Cys Single submitter ⚠
p.Pro173Ser Single submitter ⚠
p.Pro177Leu Single submitter ⚠
p.Pro207Thr Single submitter ⚠
p.Pro319Leu Single submitter ⚠
p.Pro53Thr Single submitter ⚠
p.Pro557Ser Single submitter ⚠
p.Pro614Ser Single submitter ⚠
p.Pro69Arg Single submitter ⚠
p.Pro69Leu Single submitter ⚠
p.Pro820Arg Single submitter ⚠
p.Pro908Leu Single submitter ⚠
p.Ser134Thr Single submitter ⚠
p.Ser165Arg Single submitter ⚠
p.Ser165Asn Single submitter ⚠
p.Ser27Phe Single submitter ⚠
p.Ser343Gly Single submitter ⚠
p.Ser515Phe Single submitter ⚠
p.Ser733Arg Single submitter ⚠
p.Ser733Asn Single submitter ⚠
p.Ser944Cys Single submitter ⚠
p.Ser944Phe Single submitter ⚠
p.Thr170Ala Single submitter ⚠
p.Thr197Ala Single submitter ⚠
p.Thr213Ser Single submitter ⚠
p.Thr35Ala Single submitter ⚠
p.Thr366Ile Single submitter ⚠
p.Thr514Ala Single submitter ⚠
p.Thr582Met Single submitter ⚠
p.Thr732Ile Single submitter ⚠
p.Thr74Ala Single submitter ⚠
p.Thr962Pro Single submitter ⚠
p.Trp229Leu Single submitter ⚠
p.Trp645Arg Single submitter ⚠
p.Tyr581His Single submitter ⚠
p.Val239Ile Single submitter ⚠
p.Val33Leu Single submitter ⚠
p.Val406Met Single submitter ⚠
p.Val842Ile Single submitter ⚠
p.Ser135Ala No assertion criteria Nonsyndromic hearing impairment ⚠