RPS6KB1 — 24 ClinVar variants

All ClinVar germline RPS6KB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →

2 Benign · 2 Likely benign · 20 Uncertain significance

Full RPS6KB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 20

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 16

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 RPS6KB1 variants

Benign 2

c.313-8T>A Multiple submitters
p.Glu45= Multiple submitters

Likely benign 2

c.141+8C>G Single submitter
p.Leu310= Single submitter

Uncertain significance 20

p.Ala21Thr Single submitter ⚠
p.Ala466Val Single submitter ⚠
p.Arg443Gln Single submitter ⚠
p.Arg5Ser Single submitter ⚠
p.Arg7Trp Single submitter ⚠
p.Asn115Tyr Single submitter ⚠
p.Asn145Ser Single submitter ⚠
p.Asp18Asn Single submitter ⚠
p.Glu377Lys Single submitter ⚠
p.Glu41Asp Single submitter ⚠
p.Glu477Ala Single submitter ⚠
p.Gly247Glu Single submitter ⚠
p.Gly26Arg Single submitter ⚠
p.Gly39Cys Single submitter ⚠
p.Gly48Cys Single submitter ⚠
p.Gly58Arg Single submitter ⚠
p.Leu64Ile Single submitter ⚠
p.Ser462Pro Single submitter ⚠
p.Thr399Ser Single submitter ⚠
p.Val446Leu Single submitter ⚠