PPP6R1 — 166 ClinVar variants

All ClinVar germline PPP6R1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

2 Benign · 1 Benign/Likely benign · 6 Likely benign · 157 Uncertain significance

Full PPP6R1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

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 117

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

Predictors split 28

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

All PPP6R1 variants

Benign 2

c.2643-10C>T Multiple submitters
p.Arg692Cys Single submitter

Benign/Likely benign 1

p.Val286Met Multiple submitters

Likely benign 6

p.Asn584= Single submitter
p.Gln454= Single submitter
p.Gly694Arg Single submitter
p.Gly731Arg Single submitter
p.Leu433= Single submitter
p.Ser818Leu Single submitter

Uncertain significance 157

p.Glu277Val Multiple submitters ⚠
c.1008+4_1008+5del Single submitter
c.2378-2A>G Single submitter
p.Ala319Thr Single submitter ⚠
p.Ala368Thr Single submitter ⚠
p.Ala371Val Single submitter ⚠
p.Ala456Val Single submitter ⚠
p.Ala564Thr Single submitter ⚠
p.Ala585Thr Single submitter ⚠
p.Ala644Thr Single submitter ⚠
p.Ala651Asp Single submitter ⚠
p.Ala654Val Single submitter ⚠
p.Ala691Asp Single submitter ⚠
p.Ala797Val Single submitter ⚠
p.Ala806Thr Single submitter ⚠
p.Ala876Pro Single submitter ⚠
p.Arg175Gln Single submitter ⚠
p.Arg175Trp Single submitter ⚠
p.Arg194Leu Single submitter
p.Arg220Cys Single submitter ⚠
p.Arg220His Single submitter ⚠
p.Arg223Gln Single submitter
p.Arg321Cys Single submitter ⚠
p.Arg321His Single submitter ⚠
p.Arg42Cys Single submitter ⚠
p.Arg42His Single submitter ⚠
p.Arg442Trp Single submitter ⚠
p.Arg452Cys Single submitter ⚠
p.Arg488Trp Single submitter ⚠
p.Arg537Gln Single submitter ⚠
p.Arg537Trp Single submitter ⚠
p.Arg616His Single submitter ⚠
p.Arg655Cys Single submitter ⚠
p.Arg655His Single submitter ⚠
p.Arg663Trp Single submitter ⚠
p.Arg692His Single submitter ⚠
p.Arg74His Single submitter ⚠
p.Arg763Cys Single submitter ⚠
p.Arg812His Single submitter ⚠
p.Asn117Ile Single submitter ⚠
p.Asn184Ser Single submitter ⚠
p.Asn514Lys Single submitter
p.Asn572Asp Single submitter ⚠
p.Asn572Ser Single submitter ⚠
p.Asn868Ser Single submitter ⚠
p.Asn93Ser Single submitter ⚠
p.Asp181Gly Single submitter ⚠
p.Asp204Asn Single submitter ⚠
p.Asp236Glu Single submitter
p.Asp29Asn Single submitter ⚠
p.Asp370Gly Single submitter ⚠
p.Asp621His Single submitter
p.Asp803Gly Single submitter ⚠
p.Asp88Glu Single submitter ⚠
p.Cys406Ser Single submitter
p.Cys689Tyr Single submitter ⚠
p.Gln245Glu Single submitter ⚠
p.Gln260Lys Single submitter ⚠
p.Gln436fs Single submitter
p.Gln476Arg Single submitter ⚠
p.Gln486His Single submitter ⚠
p.Gln557His Single submitter ⚠
p.Gln796Arg Single submitter ⚠
p.Gln839Glu Single submitter ⚠
p.Gln839His Single submitter ⚠
p.Glu249Lys Single submitter ⚠
p.Glu31Gly Single submitter ⚠
p.Glu338Lys Single submitter ⚠
p.Glu376Lys Single submitter ⚠
p.Glu479Lys Single submitter ⚠
p.Glu493Gly Single submitter ⚠
p.Glu540Lys Single submitter ⚠
p.Glu624Ala Single submitter ⚠
p.Glu629Lys Single submitter ⚠
p.Glu70Asp Single submitter ⚠
p.Glu83Lys Single submitter ⚠
p.Glu848Gln Single submitter ⚠
p.Glu848Val Single submitter ⚠
p.Gly114Ser Single submitter ⚠
p.Gly305Glu Single submitter ⚠
p.Gly458Ser Single submitter ⚠
p.Gly472Cys Single submitter ⚠
p.Gly472Ser Single submitter ⚠
p.Gly570Ser Single submitter ⚠
p.Gly647Asp Single submitter ⚠
p.Gly661Asp Single submitter ⚠
p.Gly69Ser Single submitter ⚠
p.Gly802Arg Single submitter ⚠
p.Gly810Arg Single submitter ⚠
p.Gly833Arg Single submitter ⚠
p.Gly843Glu Single submitter ⚠
p.His208Arg Single submitter ⚠
p.His328Tyr Single submitter ⚠
p.His736Arg Single submitter ⚠
p.Ile566Met Single submitter ⚠
p.Leu106Ile Single submitter
p.Leu165Phe Single submitter ⚠
p.Leu275Met Single submitter ⚠
p.Leu366Val Single submitter ⚠
p.Met128Val Single submitter ⚠
p.Met255Val Single submitter ⚠
p.Met346Ile Single submitter ⚠
p.Phe541Cys Single submitter ⚠
p.Phe541Leu Single submitter ⚠
p.Pro278Ala Single submitter ⚠
p.Pro281Leu Single submitter ⚠
p.Pro322Leu Single submitter ⚠
p.Pro334Leu Single submitter
p.Pro335Leu Single submitter ⚠
p.Pro335Ser Single submitter ⚠
p.Pro339Thr Single submitter ⚠
p.Pro417Leu Single submitter ⚠
p.Pro710Thr Single submitter ⚠
p.Pro739Ala Single submitter ⚠
p.Pro739Leu Single submitter ⚠
p.Pro742Ser Single submitter ⚠
p.Pro760Arg Single submitter ⚠
p.Pro760Leu Single submitter ⚠
p.Pro776Arg Single submitter ⚠
p.Pro794Leu Single submitter ⚠
p.Pro815Leu Single submitter ⚠
p.Pro815Ser Single submitter ⚠
p.Pro837His Single submitter ⚠
p.Pro847Ser Single submitter ⚠
p.Pro865Leu Single submitter ⚠
p.Pro878Leu Single submitter ⚠
p.Ser202Leu Single submitter ⚠
p.Ser232Asn Single submitter ⚠
p.Ser293Cys Single submitter ⚠
p.Ser294Gly Single submitter ⚠
p.Ser420Arg Single submitter ⚠
p.Ser529Phe Single submitter ⚠
p.Ser582Ile Single submitter ⚠
p.Ser702Cys Single submitter ⚠
p.Ser702Gly Single submitter ⚠
p.Ser730Phe Single submitter ⚠
p.Ser826fs Single submitter
p.Ser828Phe Single submitter ⚠
p.Ser880Thr Single submitter ⚠
p.Thr15Ala Single submitter ⚠
p.Thr247Ala Single submitter ⚠
p.Thr247Met Single submitter ⚠
p.Thr374Met Single submitter ⚠
p.Thr445Met Single submitter ⚠
p.Thr774Ile Single submitter ⚠
p.Thr841Ala Single submitter ⚠
p.Thr862Met Single submitter ⚠
p.Val192Ile Single submitter ⚠
p.Val271Leu Single submitter ⚠
p.Val382Met Single submitter ⚠
p.Val394Gly Single submitter ⚠
p.Val403Ile Single submitter ⚠
p.Val429Ile Single submitter ⚠
p.Val506Leu Single submitter ⚠
p.Val522Met Single submitter ⚠
p.Val788Ile Single submitter ⚠
p.Val799Ala Single submitter ⚠