SCLY — 88 ClinVar variants

All ClinVar germline SCLY variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

4 Benign · 6 Likely benign · 78 Uncertain significance

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

⚑ Evidence disagreements 76

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 51

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

Predictors split 25

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

All SCLY variants

Benign 4

c.612+7C>T Multiple submitters
p.Ile86Met Multiple submitters
p.Phe276Ser Multiple submitters
p.Val326Ile Multiple submitters

Likely benign 6

p.Ala387= Single submitter
p.Arg189Cys Single submitter
p.Arg367Gln Single submitter
p.Ile139Val Single submitter
p.Pro64Leu Single submitter
p.Val230Met Single submitter

Uncertain significance 78

p.Ala161Gly Single submitter ⚠
p.Ala183Val Single submitter ⚠
p.Ala235Ser Single submitter ⚠
p.Ala267Thr Single submitter ⚠
p.Ala309Gly Single submitter ⚠
p.Ala309Thr Single submitter ⚠
p.Ala375Gly Single submitter ⚠
p.Ala386Ser Single submitter ⚠
p.Ala71Thr Single submitter ⚠
p.Ala83Ser Single submitter ⚠
p.Arg149Gln Single submitter ⚠
p.Arg185Cys Single submitter ⚠
p.Arg185His Single submitter ⚠
p.Arg189His Single submitter ⚠
p.Arg212His Single submitter ⚠
p.Arg212Pro Single submitter ⚠
p.Arg242Cys Single submitter ⚠
p.Arg242His Single submitter ⚠
p.Arg242Ser Single submitter ⚠
p.Arg290Gln Single submitter ⚠
p.Arg290Trp Single submitter ⚠
p.Arg293Lys Single submitter ⚠
p.Arg324Ser Single submitter ⚠
p.Arg327Cys Single submitter ⚠
p.Arg327His Single submitter ⚠
p.Arg364Trp Single submitter ⚠
p.Arg367Trp Single submitter ⚠
p.Arg378Gln Single submitter ⚠
p.Arg69Ile Single submitter ⚠
p.Arg79Trp Single submitter ⚠
p.Asn197Ser Single submitter ⚠
p.Asn360His Single submitter ⚠
p.Asp179Asn Single submitter ⚠
p.Asp251Glu Single submitter ⚠
p.Asp328Asn Single submitter ⚠
p.Asp73Gly Single submitter ⚠
p.Cys316Arg Single submitter ⚠
p.Gln241Leu Single submitter ⚠
p.Glu144Gln Single submitter ⚠
p.Glu289Lys Single submitter ⚠
p.Glu317Lys Single submitter ⚠
p.Glu56Ala Single submitter ⚠
p.Gly257Arg Single submitter ⚠
p.Gly393Arg Single submitter ⚠
p.Gly87Val Single submitter
p.Gly98Arg Single submitter ⚠
p.Ile202Thr Single submitter ⚠
p.Ile363Val Single submitter ⚠
p.Leu195Val Single submitter ⚠
p.Lys89Asn Single submitter ⚠
p.Met301Val Single submitter ⚠
p.Met323Val Single submitter ⚠
p.Met50Ile Single submitter ⚠
p.Met50Thr Single submitter
p.Met85Ile Single submitter ⚠
p.Phe361Ile Single submitter ⚠
p.Pro167Ala Single submitter ⚠
p.Pro167Leu Single submitter ⚠
p.Pro186Arg Single submitter ⚠
p.Pro300Leu Single submitter ⚠
p.Pro366Arg Single submitter ⚠
p.Pro41Ala Single submitter ⚠
p.Pro44Arg Single submitter ⚠
p.Ser210Arg Single submitter ⚠
p.Ser390Leu Single submitter ⚠
p.Ser97Phe Single submitter ⚠
p.Thr100Ile Single submitter ⚠
p.Thr100Ser Single submitter ⚠
p.Thr232Met Single submitter ⚠
p.Thr352Ser Single submitter ⚠
p.Thr39Ala Single submitter ⚠
p.Tyr65Asn Single submitter ⚠
p.Val221Met Single submitter ⚠
p.Val230Gly Single submitter ⚠
p.Val243Met Single submitter ⚠
p.Val245Met Single submitter ⚠
p.Val250Met Single submitter ⚠
p.Val326Ala Single submitter ⚠