TIMCC — 35 ClinVar variants

All ClinVar germline TIMCC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →

1 Benign · 1 Benign/Likely benign · 28 Likely benign · 5 Uncertain significance

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

⚑ Evidence disagreements 7

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 3

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

Predictors split 4

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

All TIMCC variants

Benign 1

p.Arg185His Single submitter

Benign/Likely benign 1

p.Asn24= Multiple submitters

Likely benign 28

p.Asp215fs Multiple submitters
c.550-4_550-3insGCTGTCGTGAGGACAGGCAGGCTTCCATGCAGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC Single submitter
c.550-4_550-3insGGCTTCCATGCAGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC Single submitter
c.-2C>T Single submitter
c.*5A>C Single submitter
c.*7T>C Single submitter
p.Ala239Pro Single submitter ⚠
p.Ala54Val Single submitter
p.Ala60= Single submitter
p.Arg185Cys Single submitter
p.Arg188Gln Single submitter
p.Asn36Thr Single submitter
p.Asp195His Single submitter
p.Cys217fs Single submitter
p.Gln79Arg Single submitter
p.Gly244= Single submitter
p.Gly68= Single submitter
p.Gly82= Single submitter
p.His227= Single submitter
p.Leu228Val Single submitter
p.Leu241Ser Single submitter
p.Leu77Val Single submitter
p.Met236Ile Single submitter ⚠
p.Met236Thr Single submitter
p.Pro126fs Single submitter
p.Ser242= Single submitter
p.Trp119Ser Single submitter
p.Val218= Single submitter

Uncertain significance 5

p.Arg141Gln Single submitter ⚠
p.Gln172His Single submitter ⚠
p.His227Asp Single submitter ⚠
p.Ile243Met Single submitter ⚠
p.Met154Thr Single submitter ⚠