SEC62 — 25 ClinVar variants
All ClinVar germline SEC62 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
2 Benign · 23 Uncertain significance
Full SEC62 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SEC62 p.Ala115Asp Uncertain significance Single submitter
- SEC62 p.Arg339Gln Uncertain significance Single submitter
- SEC62 p.Arg347Gly Uncertain significance Single submitter
- SEC62 p.Glu116Gly Uncertain significance Single submitter
- SEC62 p.Glu300Gly Uncertain significance Single submitter
- SEC62 p.Glu321Gly Uncertain significance Single submitter
- SEC62 p.Gly336Arg Uncertain significance Single submitter
- SEC62 p.Gly336Glu Uncertain significance Single submitter
- SEC62 p.Ile130Arg Uncertain significance Single submitter
- SEC62 p.Lys393Thr Uncertain significance Single submitter
- SEC62 p.Lys99Arg Uncertain significance Single submitter
- SEC62 p.Pro156Ser Uncertain significance Single submitter
- SEC62 p.Ser315Gly Uncertain significance Single submitter
- SEC62 p.Thr135Ile Uncertain significance Single submitter
- SEC62 p.Trp216Ser Uncertain significance Single submitter
- SEC62 p.Val243Ile Uncertain significance Single submitter
- SEC62 p.Val44Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All SEC62 variants
Uncertain significance 23
- p.Ala115Asp Single submitter ⚠
- p.Ala209Val Single submitter
- p.Ala94Val Single submitter ⚠
- p.Arg339Gln Single submitter ⚠
- p.Arg347Gly Single submitter ⚠
- p.Asn129Tyr Single submitter ⚠
- p.Glu116Gly Single submitter ⚠
- p.Glu300Gly Single submitter ⚠
- p.Glu321Gly Single submitter ⚠
- p.Gly336Arg Single submitter ⚠
- p.Gly336Glu Single submitter ⚠
- p.His284Arg Single submitter ⚠
- p.Ile130Arg Single submitter ⚠
- p.Lys294Asn Single submitter ⚠
- p.Lys393Thr Single submitter ⚠
- p.Lys99Arg Single submitter ⚠
- p.Phe264Leu Single submitter ⚠
- p.Pro156Ser Single submitter ⚠
- p.Ser315Gly Single submitter ⚠
- p.Thr135Ile Single submitter ⚠
- p.Trp216Ser Single submitter ⚠
- p.Val243Ile Single submitter ⚠
- p.Val44Ile Single submitter ⚠