NCS1 — 12 ClinVar variants
All ClinVar germline NCS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
2 Benign · 1 Likely benign · 9 Uncertain significance
Full NCS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NCS1 p.Ala45Val Uncertain significance Single submitter
- NCS1 p.Arg148Gly Uncertain significance Single submitter
- NCS1 p.Arg94Trp Uncertain significance Single submitter
- NCS1 p.Asn119Ser Uncertain significance Single submitter
- NCS1 p.Asp187His Uncertain significance Single submitter
- NCS1 p.Ile35Met Uncertain significance Single submitter
- NCS1 p.Ser90Leu Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All NCS1 variants
Benign 2
- c.474+8G>T Multiple submitters
- c.396+10C>T Single submitter
Likely benign 1
- p.Thr62= Single submitter
Uncertain significance 9
- p.Ala45Val Single submitter ⚠
- p.Arg148Gly Single submitter ⚠
- p.Arg94Trp Single submitter ⚠
- p.Asn119Ser Single submitter ⚠
- p.Asp187His Single submitter ⚠
- p.Ile35Met Single submitter ⚠
- p.Ser90Leu Single submitter ⚠
- p.Val136Met Single submitter ⚠
- p.Val71Ile Single submitter ⚠