RPS6KA1 — 89 ClinVar variants

All ClinVar germline RPS6KA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →

5 Likely benign · 84 Uncertain significance

Full RPS6KA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 63

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 47

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

Predictors split 16

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

All RPS6KA1 variants

Likely benign 5

c.109-839G>A Single submitter
p.Gly610= Single submitter
p.Pro34= Single submitter
p.Pro34Leu Single submitter
p.Val40Ile Single submitter

Uncertain significance 84

c.109-833C>T Single submitter
c.109-840C>T Single submitter
c.109-845C>T Single submitter
c.109-849G>A Single submitter
c.109-893C>G Single submitter
c.109-896G>A Single submitter
c.109-897C>T Single submitter
c.109-936C>T Single submitter
c.109-942C>A Single submitter
c.757-3C>T Single submitter
p.Ala295Val Single submitter ⚠
p.Ala30Thr Single submitter ⚠
p.Ala370Thr Single submitter ⚠
p.Ala52Ser Single submitter ⚠
p.Ala582Val Single submitter ⚠
p.Ala704Val Single submitter ⚠
p.Ala723Ser Single submitter
p.Arg106Cys Single submitter ⚠
p.Arg108Gln Single submitter ⚠
p.Arg145His Single submitter ⚠
p.Arg152Gln Single submitter ⚠
p.Arg152Trp Single submitter ⚠
p.Arg317Trp Single submitter
p.Arg331Cys Single submitter ⚠
p.Arg332His Single submitter
p.Arg358Cys Single submitter
p.Arg358His Single submitter
p.Arg434Cys Single submitter
p.Arg454Gln Single submitter ⚠
p.Arg503Trp Single submitter ⚠
p.Arg510Gln Single submitter ⚠
p.Arg628Gln Single submitter
p.Arg663Cys Single submitter ⚠
p.Arg84Gln Single submitter ⚠
p.Arg84Trp Single submitter ⚠
p.Asn549Ile Single submitter ⚠
p.Asp390Asn Single submitter ⚠
p.Asp620Gly Single submitter ⚠
p.Gln283Arg Single submitter
p.Gln692Leu Single submitter ⚠
p.Gln713Glu Single submitter ⚠
p.Glu459Gly Single submitter ⚠
p.Glu524Asp Single submitter ⚠
p.Glu551Lys Single submitter ⚠
p.Glu718Lys Single submitter ⚠
p.Gly238Asp Single submitter ⚠
p.Gly378Asp Single submitter ⚠
p.Gly391Ser Single submitter ⚠
p.Gly417Ser Single submitter ⚠
p.Gly530Arg Single submitter ⚠
p.Gly53Val Single submitter ⚠
p.Gly548Arg Single submitter
p.Gly594Val Single submitter ⚠
p.Gly639Glu Single submitter ⚠
p.Gly696Arg Single submitter ⚠
p.His408Leu Single submitter ⚠
p.Ile602Met Single submitter ⚠
p.Leu386Pro Single submitter ⚠
p.Leu487Met Single submitter ⚠
p.Leu636Val Single submitter ⚠
p.Leu705Phe Single submitter ⚠
p.Lys217Arg Single submitter ⚠
p.Lys361Glu Single submitter ⚠
p.Met698Val Single submitter ⚠
p.Phe253Leu Single submitter ⚠
p.Pro368Arg Single submitter ⚠
p.Pro396Leu Single submitter ⚠
p.Pro550Leu Single submitter ⚠
p.Pro716Leu Single submitter
p.Ser242Cys Single submitter ⚠
p.Ser402Leu Single submitter ⚠
p.Thr323Asn Single submitter ⚠
p.Thr522Ala Single submitter ⚠
p.Thr606Ile Single submitter ⚠
p.Thr701Met Single submitter ⚠
p.Val107Ile Single submitter ⚠
p.Val157Met Single submitter ⚠
p.Val234Ile Single submitter ⚠
p.Val382Met Single submitter ⚠
p.Val426Leu Single submitter ⚠
p.Val485Met Single submitter
p.Val50Ile Single submitter ⚠
p.Val658Met Single submitter ⚠
p.Val95Met Single submitter ⚠