RCSD1 — 71 ClinVar variants
All ClinVar germline RCSD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
4 Likely benign · 67 Uncertain significance
Full RCSD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RCSD1 p.Ala137Thr Uncertain significance Single submitter
- RCSD1 p.Ala16Thr Uncertain significance Single submitter
- RCSD1 p.Ala213Thr Uncertain significance Single submitter
- RCSD1 p.Ala224Val Uncertain significance Single submitter
- RCSD1 p.Ala234Ser Uncertain significance Single submitter
- RCSD1 p.Ala31Val Uncertain significance Single submitter
- RCSD1 p.Ala33Val Uncertain significance Single submitter
- RCSD1 p.Ala39Pro Uncertain significance Single submitter
- RCSD1 p.Arg131Gln Uncertain significance Single submitter
- RCSD1 p.Arg168Cys Uncertain significance Single submitter
- RCSD1 p.Arg168His Uncertain significance Single submitter
- RCSD1 p.Arg176Lys Uncertain significance Single submitter
- RCSD1 p.Arg266Gln Uncertain significance Single submitter
- RCSD1 p.Arg300Lys Uncertain significance Single submitter
- RCSD1 p.Arg321Lys Uncertain significance Single submitter
- RCSD1 p.Asn92Ser Uncertain significance Single submitter
- RCSD1 p.Asp145Asn Uncertain significance Single submitter
- RCSD1 p.Asp59His Uncertain significance Single submitter
- RCSD1 p.Gln146His Uncertain significance Single submitter
- RCSD1 p.Glu138Lys Uncertain significance Single submitter
- RCSD1 p.Glu256Lys Uncertain significance Single submitter
- RCSD1 p.Glu279Gly Uncertain significance Single submitter
- RCSD1 p.Glu293Asp Uncertain significance Single submitter
- RCSD1 p.Glu301Lys Uncertain significance Single submitter
- RCSD1 p.Glu312Gln Uncertain significance Single submitter
- RCSD1 p.Glu369Gly Uncertain significance Single submitter
- RCSD1 p.Glu399Lys Uncertain significance Single submitter
- RCSD1 p.Gly319Arg Uncertain significance Single submitter
- RCSD1 p.Gly358Asp Uncertain significance Single submitter
- RCSD1 p.Gly359Arg Uncertain significance Single submitter
- RCSD1 p.His275Pro Uncertain significance Single submitter
- RCSD1 p.His331Leu Uncertain significance Single submitter
- RCSD1 p.Leu184Pro Uncertain significance Single submitter
- RCSD1 p.Leu207Trp Uncertain significance Single submitter
- RCSD1 p.Lys337Asn Uncertain significance Single submitter
- RCSD1 p.Lys415Glu Uncertain significance Single submitter
- RCSD1 p.Lys57Arg Uncertain significance Single submitter
- RCSD1 p.Pro102Ser Uncertain significance Single submitter
- RCSD1 p.Pro147His Uncertain significance Single submitter
- RCSD1 p.Pro217Leu Uncertain significance Single submitter
- RCSD1 p.Pro276Leu Uncertain significance Single submitter
- RCSD1 p.Pro304Leu Uncertain significance Single submitter
- RCSD1 p.Pro352Thr Uncertain significance Single submitter
- RCSD1 p.Pro353Ser Uncertain significance Single submitter
- RCSD1 p.Pro38Leu Uncertain significance Single submitter
- RCSD1 p.Pro403Leu Uncertain significance Single submitter
- RCSD1 p.Pro56Ala Uncertain significance Single submitter
- RCSD1 p.Pro56Ser Uncertain significance Single submitter
- RCSD1 p.Ser219Phe Uncertain significance Single submitter
- RCSD1 p.Ser284Leu Uncertain significance Single submitter
- RCSD1 p.Ser351Gly Uncertain significance Single submitter
- RCSD1 p.Thr230Asn Uncertain significance Single submitter
- RCSD1 p.Thr348Asn Uncertain significance Single submitter
- RCSD1 p.Val190Leu Uncertain significance Single submitter
- RCSD1 p.Val411Leu Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- RCSD1 p.Ala21Gly Uncertain significance Single submitter
- RCSD1 p.Arg45Lys Uncertain significance Single submitter
- RCSD1 p.Leu184Arg Uncertain significance Single submitter
- RCSD1 p.Pro117Arg Uncertain significance Single submitter
- RCSD1 p.Pro52His Uncertain significance Single submitter
- RCSD1 p.Pro56Leu Uncertain significance Single submitter
- RCSD1 p.Ser116Pro Uncertain significance Single submitter
- RCSD1 p.Thr124Ile Uncertain significance Single submitter
- RCSD1 p.Val20Ala Uncertain significance Single submitter
All RCSD1 variants
Likely benign 4
- p.Gln372Glu Single submitter
- p.Gly261Ser Single submitter
- p.Ser192Pro Single submitter
- p.Ser267Asn Single submitter
Uncertain significance 67
- p.Ala137Thr Single submitter ⚠
- p.Ala16Thr Single submitter ⚠
- p.Ala213Thr Single submitter ⚠
- p.Ala21Gly Single submitter ⚠
- p.Ala224Val Single submitter ⚠
- p.Ala234Ser Single submitter ⚠
- p.Ala31Val Single submitter ⚠
- p.Ala33Val Single submitter ⚠
- p.Ala39Pro Single submitter ⚠
- p.Arg131Gln Single submitter ⚠
- p.Arg168Cys Single submitter ⚠
- p.Arg168His Single submitter ⚠
- p.Arg176Lys Single submitter ⚠
- p.Arg266Gln Single submitter ⚠
- p.Arg300Lys Single submitter ⚠
- p.Arg321Lys Single submitter ⚠
- p.Arg45Lys Single submitter ⚠
- p.Asn92Ser Single submitter ⚠
- p.Asp145Asn Single submitter ⚠
- p.Asp59His Single submitter ⚠
- p.Gln146His Single submitter ⚠
- p.Glu138Lys Single submitter ⚠
- p.Glu256Lys Single submitter ⚠
- p.Glu279Gly Single submitter ⚠
- p.Glu293Asp Single submitter ⚠
- p.Glu301Lys Single submitter ⚠
- p.Glu312Gln Single submitter ⚠
- p.Glu369Gly Single submitter ⚠
- p.Glu399Lys Single submitter ⚠
- p.Gly197Arg Single submitter
- p.Gly319Arg Single submitter ⚠
- p.Gly358Asp Single submitter ⚠
- p.Gly359Arg Single submitter ⚠
- p.His275Pro Single submitter ⚠
- p.His331Leu Single submitter ⚠
- p.Leu184Arg Single submitter ⚠
- p.Leu184Pro Single submitter ⚠
- p.Leu207Trp Single submitter ⚠
- p.Lys337Asn Single submitter ⚠
- p.Lys415Glu Single submitter ⚠
- p.Lys57Arg Single submitter ⚠
- p.Pro102Ser Single submitter ⚠
- p.Pro106Leu Single submitter
- p.Pro117Arg Single submitter ⚠
- p.Pro147His Single submitter ⚠
- p.Pro217Leu Single submitter ⚠
- p.Pro276Leu Single submitter ⚠
- p.Pro304Leu Single submitter ⚠
- p.Pro352Thr Single submitter ⚠
- p.Pro353Ser Single submitter ⚠
- p.Pro38Leu Single submitter ⚠
- p.Pro403Leu Single submitter ⚠
- p.Pro42Ser Single submitter
- p.Pro52His Single submitter ⚠
- p.Pro56Ala Single submitter ⚠
- p.Pro56Leu Single submitter ⚠
- p.Pro56Ser Single submitter ⚠
- p.Ser116Pro Single submitter ⚠
- p.Ser219Phe Single submitter ⚠
- p.Ser284Leu Single submitter ⚠
- p.Ser351Gly Single submitter ⚠
- p.Thr124Ile Single submitter ⚠
- p.Thr230Asn Single submitter ⚠
- p.Thr348Asn Single submitter ⚠
- p.Val190Leu Single submitter ⚠
- p.Val20Ala Single submitter ⚠
- p.Val411Leu Single submitter ⚠