SEC24C — 158 ClinVar variants

All ClinVar germline SEC24C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →

1 Likely pathogenic · 2 Conflicting · 5 Benign · 1 Benign/Likely benign · 7 Likely benign · 142 Uncertain significance

Full SEC24C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 132

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 agree, ClinVar conflicts 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 109

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

Predictors split 21

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

All SEC24C variants

Likely pathogenic 1

p.Ser112fs Single submitter developmental and epileptic encephalopathy

Conflicting classifications of pathogenicity 2

p.Gly147Ser Single submitter ⚠
p.Val591Ile Single submitter ⚠

Benign 5

c.1800-7T>C Multiple submitters
c.3145-4G>A Multiple submitters
c.850+10T>G Multiple submitters
p.Ala566= Multiple submitters
p.Pro255Ala Multiple submitters

Benign/Likely benign 1

p.Gly257= Multiple submitters

Likely benign 7

p.Pro958= Multiple submitters
p.Thr870= Multiple submitters
p.Asn2= Single submitter
p.Lys319= Single submitter
p.Met387Thr Single submitter ⚠
p.Ser996= Single submitter
p.Val923= Single submitter

Uncertain significance 142

p.Ala43Val Single submitter ⚠
p.Ala62Thr Single submitter ⚠
p.Ala707Thr Single submitter ⚠
p.Ala82Val Single submitter ⚠
p.Arg1090Gln Single submitter ⚠
p.Arg204Gln Single submitter ⚠
p.Arg222Trp Single submitter ⚠
p.Arg290Gln Single submitter ⚠
p.Arg290Trp Single submitter ⚠
p.Arg404Ser Single submitter ⚠
p.Arg443Gly Single submitter ⚠
p.Arg444Cys Single submitter ⚠
p.Arg521Ser Single submitter ⚠
p.Arg546Cys Single submitter
p.Arg546His Single submitter ⚠
p.Arg61Lys Single submitter ⚠
p.Arg661Lys Single submitter ⚠
p.Arg734Gln Single submitter ⚠
p.Arg740His Single submitter ⚠
p.Arg798Gln Single submitter ⚠
p.Arg798Trp Single submitter ⚠
p.Arg823Cys Single submitter ⚠
p.Arg868Cys Single submitter ⚠
p.Arg868Gly Single submitter ⚠
p.Arg868Ser Single submitter ⚠
p.Arg928His Single submitter ⚠
p.Arg950Trp Single submitter
p.Arg974His Single submitter
p.Asn339Tyr Single submitter ⚠
p.Asn496Asp Single submitter
p.Asn496Ser Single submitter ⚠
p.Asn800Asp Single submitter ⚠
p.Asn977Ile Single submitter ⚠
p.Asn977Ser Single submitter ⚠
p.Asn988Ser Single submitter ⚠
p.Asp1056Glu Single submitter ⚠
p.Asp324Gly Single submitter ⚠
p.Asp416Asn Single submitter ⚠
p.Asp731Asn Single submitter
p.Cys816Ser Single submitter ⚠
p.Cys832Arg Single submitter ⚠
p.Cys832Gly Single submitter
p.Gln102Glu Single submitter ⚠
p.Gln1054Arg Single submitter
p.Gln144Glu Single submitter ⚠
p.Gln314Pro Single submitter ⚠
p.Gln459Glu Single submitter ⚠
p.Gln998His Single submitter ⚠
p.Glu408Asp Single submitter ⚠
p.Glu408Val Single submitter ⚠
p.Gly106Glu Single submitter ⚠
p.Gly1074Arg Single submitter ⚠
p.Gly1074Trp Single submitter ⚠
p.Gly14Arg Single submitter
p.Gly284Asp Single submitter ⚠
p.Gly287Arg Single submitter ⚠
p.Gly291Val Single submitter ⚠
p.Gly311Glu Single submitter ⚠
p.Gly441Arg Single submitter ⚠
p.Gly539Glu Single submitter ⚠
p.Gly804Arg Single submitter ⚠
p.His1084Gln Single submitter ⚠
p.His24Arg Single submitter ⚠
p.His643Arg Single submitter ⚠
p.His795Gln Single submitter ⚠
p.Ile333Thr Single submitter
p.Ile505fs Single submitter
p.Ile761Val Single submitter ⚠
p.Ile872Phe Single submitter
p.Leu1066Val Single submitter ⚠
p.Leu124Phe Single submitter ⚠
p.Leu672Val Single submitter ⚠
p.Leu709His Single submitter ⚠
p.Leu736Arg Single submitter ⚠
p.Leu904Val Single submitter ⚠
p.Lys654Glu Single submitter ⚠
p.Met387Ile Single submitter ⚠
p.Met436Ile Single submitter ⚠
p.Met570Thr Single submitter ⚠
p.Met753Val Single submitter ⚠
p.Phe13Ser Single submitter ⚠
p.Phe445Ser Single submitter ⚠
p.Phe735Cys Single submitter ⚠
p.Phe735Val Single submitter ⚠
p.Phe793Leu Single submitter ⚠
p.Phe946Val Single submitter ⚠
p.Pro121Ser Single submitter ⚠
p.Pro250Thr Single submitter ⚠
p.Pro329Leu Single submitter ⚠
p.Pro55Leu Single submitter ⚠
p.Pro69Ser Single submitter ⚠
p.Pro863Ser Single submitter ⚠
p.Pro919Ser Single submitter ⚠
p.Pro953Leu Single submitter ⚠
p.Pro95Arg Single submitter ⚠
p.Pro966Thr Single submitter ⚠
p.Ser1009Cys Single submitter ⚠
p.Ser1073Asn Single submitter ⚠
p.Ser107Phe Single submitter ⚠
p.Ser1094Asn Single submitter ⚠
p.Ser141Tyr Single submitter
p.Ser168Leu Single submitter ⚠
p.Ser176Thr Single submitter ⚠
p.Ser181Cys Single submitter ⚠
p.Ser181Pro Single submitter ⚠
p.Ser208Leu Single submitter ⚠
p.Ser225Leu Single submitter ⚠
p.Ser235Asn Single submitter ⚠
p.Ser242Thr Single submitter ⚠
p.Ser308Asn Single submitter ⚠
p.Ser370Asn Single submitter ⚠
p.Ser370Gly Single submitter ⚠
p.Ser72Ala Single submitter ⚠
p.Ser888Gly Single submitter
p.Thr164Ile Single submitter ⚠
p.Thr201Ile Single submitter ⚠
p.Thr214Ile Single submitter ⚠
p.Thr342Ala Single submitter ⚠
p.Thr517Ile Single submitter ⚠
p.Thr54Ile Single submitter ⚠
p.Thr775Met Single submitter ⚠
p.Thr814Ser Single submitter ⚠
p.Thr925Ala Single submitter ⚠
p.Thr955Ala Single submitter ⚠
p.Thr963Ile Single submitter ⚠
p.Thr98Ala Single submitter ⚠
p.Thr98Ser Single submitter ⚠
p.Tyr127Cys Single submitter ⚠
p.Tyr278His Single submitter ⚠
p.Tyr44Cys Single submitter ⚠
p.Tyr552Cys Single submitter ⚠
p.Tyr856Cys Single submitter ⚠
p.Val1023Gly Single submitter ⚠
p.Val1052Leu Single submitter ⚠
p.Val490Ala Single submitter ⚠
p.Val510Ala Single submitter ⚠
p.Val520Leu Single submitter ⚠
p.Val791Leu Single submitter ⚠
p.Val7Phe Single submitter ⚠
p.Val91Leu Single submitter ⚠
p.Val935Leu Single submitter ⚠
p.Ser500Arg No assertion criteria microcephaly ⚠