ARRDC1 — 100 ClinVar variants

All ClinVar germline ARRDC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →

6 Likely benign · 94 Uncertain significance

Full ARRDC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 94

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 55

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

Predictors split 39

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

All ARRDC1 variants

Likely benign 6

p.Ala270Val Single submitter
p.Arg342Gln Single submitter
p.Gly65Asp Single submitter
p.Ile260Val Single submitter
p.Leu297Pro Single submitter
p.Thr348Ala Single submitter

Uncertain significance 94

p.Ala223Val Single submitter ⚠
p.Ala228Val Single submitter ⚠
p.Ala25Ser Single submitter ⚠
p.Ala285Thr Single submitter ⚠
p.Ala311Thr Single submitter ⚠
p.Ala34Val Single submitter ⚠
p.Ala94Val Single submitter ⚠
p.Arg119Gln Single submitter ⚠
p.Arg119Trp Single submitter ⚠
p.Arg15His Single submitter ⚠
p.Arg175His Single submitter ⚠
p.Arg214Cys Single submitter ⚠
p.Arg220Trp Single submitter ⚠
p.Arg235Gln Single submitter ⚠
p.Arg235Trp Single submitter ⚠
p.Arg294Pro Single submitter ⚠
p.Arg294Trp Single submitter ⚠
p.Arg39Gly Single submitter ⚠
p.Arg3Leu Single submitter ⚠
p.Arg42Trp Single submitter ⚠
p.Asn148Lys Single submitter ⚠
p.Asn56His Single submitter ⚠
p.Asn68Lys Single submitter ⚠
p.Asn68Tyr Single submitter ⚠
p.Asp261Glu Single submitter ⚠
p.Gln110Arg Single submitter ⚠
p.Gln110Glu Single submitter ⚠
p.Glu240Lys Single submitter ⚠
p.Glu318Ala Single submitter ⚠
p.Glu432Lys Single submitter ⚠
p.Gly227Asp Single submitter ⚠
p.Gly282Ser Single submitter ⚠
p.Gly33Arg Single submitter ⚠
p.Gly379Asp Single submitter ⚠
p.Gly423Ser Single submitter ⚠
p.His13Tyr Single submitter ⚠
p.His327Gln Single submitter ⚠
p.Ile132Asn Single submitter ⚠
p.Ile281Leu Single submitter ⚠
p.Ile281Thr Single submitter ⚠
p.Leu243Pro Single submitter ⚠
p.Leu6Val Single submitter ⚠
p.Leu71Val Single submitter ⚠
p.Lys106Asn Single submitter ⚠
p.Lys76Asn Single submitter ⚠
p.Phe38Leu Single submitter ⚠
p.Pro103Leu Single submitter ⚠
p.Pro135Ala Single submitter ⚠
p.Pro135Ser Single submitter ⚠
p.Pro23Leu Single submitter ⚠
p.Pro23Ser Single submitter ⚠
p.Pro253Leu Single submitter ⚠
p.Pro278Leu Single submitter ⚠
p.Pro293Leu Single submitter ⚠
p.Pro305Leu Single submitter ⚠
p.Pro305Thr Single submitter ⚠
p.Pro313Leu Single submitter ⚠
p.Pro331Ser Single submitter ⚠
p.Pro365Arg Single submitter ⚠
p.Pro369Leu Single submitter ⚠
p.Pro369Ser Single submitter ⚠
p.Pro373Leu Single submitter ⚠
p.Pro37Leu Single submitter ⚠
p.Pro383Leu Single submitter ⚠
p.Pro383Ser Single submitter ⚠
p.Pro416Leu Single submitter ⚠
p.Pro97Arg Single submitter ⚠
p.Ser140Gly Single submitter ⚠
p.Ser19Arg Single submitter ⚠
p.Ser292Arg Single submitter ⚠
p.Ser338Gly Single submitter ⚠
p.Ser340Leu Single submitter ⚠
p.Ser407Tyr Single submitter ⚠
p.Ser433Thr Single submitter ⚠
p.Ser72Leu Single submitter ⚠
p.Thr169Ile Single submitter ⚠
p.Thr378Ile Single submitter ⚠
p.Thr381Ala Single submitter ⚠
p.Thr381Ile Single submitter ⚠
p.Thr395Ala Single submitter ⚠
p.Thr98Met Single submitter ⚠
p.Trp408Leu Single submitter ⚠
p.Tyr131Phe Single submitter ⚠
p.Tyr177Asp Single submitter ⚠
p.Tyr210His Single submitter ⚠
p.Tyr263Cys Single submitter ⚠
p.Val166Met Single submitter ⚠
p.Val208Met Single submitter ⚠
p.Val219Ile Single submitter ⚠
p.Val230Ile Single submitter ⚠
p.Val244Leu Single submitter ⚠
p.Val30Leu Single submitter ⚠
p.Val30Met Single submitter ⚠
p.Val51Ile Single submitter ⚠