PPP1R7 — 42 ClinVar variants
All ClinVar germline PPP1R7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Benign · 1 Likely benign · 40 Uncertain significance
Full PPP1R7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPP1R7 p.Ala140Val Uncertain significance Single submitter
- PPP1R7 p.Ala228Val Uncertain significance Single submitter
- PPP1R7 p.Arg197His Uncertain significance Single submitter
- PPP1R7 p.Arg21Gln Uncertain significance Single submitter
- PPP1R7 p.Arg54Leu Uncertain significance Single submitter
- PPP1R7 p.Arg54Pro Uncertain significance Single submitter
- PPP1R7 p.Arg54Trp Uncertain significance Single submitter
- PPP1R7 p.Asn130Ser Uncertain significance Single submitter
- PPP1R7 p.Asp29Asn Uncertain significance Single submitter
- PPP1R7 p.Asp315Asn Uncertain significance Single submitter
- PPP1R7 p.Asp50His Uncertain significance Single submitter
- PPP1R7 p.Glu52Lys Uncertain significance Single submitter
- PPP1R7 p.Glu52Val Uncertain significance Single submitter
- PPP1R7 p.Gly28Ser Uncertain significance Single submitter
- PPP1R7 p.Ile113Val Uncertain significance Single submitter
- PPP1R7 p.Ile149Thr Uncertain significance Single submitter
- PPP1R7 p.Ile245Met Uncertain significance Single submitter
- PPP1R7 p.Ile39Met Uncertain significance Single submitter
- PPP1R7 p.Leu116Met Uncertain significance Single submitter
- PPP1R7 p.Lys162Arg Uncertain significance Single submitter
-
PPP1R7 p.Lys162Thr
Uncertain significance
Single submitter
autism spectrum disorder
- PPP1R7 p.Lys287Arg Uncertain significance Single submitter
- PPP1R7 p.Ser37Asn Uncertain significance Single submitter
- PPP1R7 p.Thr164Ala Uncertain significance Single submitter
- PPP1R7 p.Thr230Ile Uncertain significance Single submitter
- PPP1R7 p.Thr230Ser Uncertain significance Single submitter
- PPP1R7 p.Thr356Met Uncertain significance Single submitter
- PPP1R7 p.Val234Ile Uncertain significance Single submitter
- PPP1R7 p.Val40Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- PPP1R7 p.Arg330Gln Uncertain significance Single submitter
- PPP1R7 p.Arg87His Uncertain significance Single submitter
- PPP1R7 p.Cys104Arg Uncertain significance Single submitter
- PPP1R7 p.Cys104Ser Uncertain significance Single submitter
- PPP1R7 p.Glu136Lys Uncertain significance Single submitter
- PPP1R7 p.Glu158Lys Uncertain significance Single submitter
- PPP1R7 p.Gly28Asp Uncertain significance Single submitter
- PPP1R7 p.Gly89Arg Uncertain significance Single submitter
- PPP1R7 p.Ile179Val Uncertain significance Single submitter
- PPP1R7 p.Leu226Val Uncertain significance Single submitter
All PPP1R7 variants
Benign 1
- p.Thr325= Multiple submitters
Likely benign 1
- p.Asn73Ser Single submitter
Uncertain significance 40
- p.Ala140Val Single submitter ⚠
- p.Ala228Val Single submitter ⚠
- p.Arg197His Single submitter ⚠
- p.Arg21Gln Single submitter ⚠
- p.Arg330Gln Single submitter ⚠
- p.Arg54Leu Single submitter ⚠
- p.Arg54Pro Single submitter ⚠
- p.Arg54Trp Single submitter ⚠
- p.Arg87His Single submitter ⚠
- p.Asn130Ser Single submitter ⚠
- p.Asp29Asn Single submitter ⚠
- p.Asp315Asn Single submitter ⚠
- p.Asp50His Single submitter ⚠
- p.Cys104Arg Single submitter ⚠
- p.Cys104Ser Single submitter ⚠
- p.Glu136Lys Single submitter ⚠
- p.Glu158Lys Single submitter ⚠
- p.Glu52Lys Single submitter ⚠
- p.Glu52Val Single submitter ⚠
- p.Gly28Asp Single submitter ⚠
- p.Gly28Ser Single submitter ⚠
- p.Gly319Arg Single submitter
- p.Gly89Arg Single submitter ⚠
- p.Ile113Val Single submitter ⚠
- p.Ile149Thr Single submitter ⚠
- p.Ile179Val Single submitter ⚠
- p.Ile245Met Single submitter ⚠
- p.Ile39Met Single submitter ⚠
- p.Leu116Met Single submitter ⚠
- p.Leu226Val Single submitter ⚠
- p.Lys162Arg Single submitter ⚠
- p.Lys162Thr Single submitter autism spectrum disorder ⚠
- p.Lys287Arg Single submitter ⚠
- p.Ser37Asn Single submitter ⚠
- p.Thr164Ala Single submitter ⚠
- p.Thr230Ile Single submitter ⚠
- p.Thr230Ser Single submitter ⚠
- p.Thr356Met Single submitter ⚠
- p.Val234Ile Single submitter ⚠
- p.Val40Met Single submitter ⚠