PPIL1 — 41 ClinVar variants
All ClinVar germline PPIL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 1 Conflicting · 1 Benign · 3 Likely benign · 26 Uncertain significance
Full PPIL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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PPIL1 p.Arg131Gln
Likely pathogenic
No assertion criteria
Congenital pontocerebellar hypoplasia
Predictors lean, ClinVar uncertain 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PPIL1 p.Ala117Thr
Uncertain significance
Single submitter
pontocerebellar hypoplasia, type 14
-
PPIL1 p.Asn102Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Asn102Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Asn13Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Asp106Asn
Uncertain significance
Single submitter
pontocerebellar hypoplasia, type 14
-
PPIL1 p.Asp66Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Gln63Pro
Uncertain significance
Single submitter
pontocerebellar hypoplasia, type 14
- PPIL1 p.Glu85Gly Uncertain significance Single submitter
- PPIL1 p.Gly135Arg Uncertain significance Single submitter
-
PPIL1 p.Gly166Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Ile4Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Lys158Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Pro164Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Thr115Asn
Uncertain significance
Single submitter
pontocerebellar hypoplasia, type 14
-
PPIL1 p.Thr119Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Thr35Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Thr93Pro
Uncertain significance
Single submitter
pontocerebellar hypoplasia, type 14
- PPIL1 p.Thr93Ser Uncertain significance Single submitter
-
PPIL1 p.Trp29Cys
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 8
The independent predictors disagree with each other — read with care.
-
PPIL1 p.Ala117Asp
Uncertain significance
Single submitter
pontocerebellar hypoplasia, type 14
-
PPIL1 p.Arg141Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Arg44Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Arg44Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Asp123Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Lys125Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPIL1 p.Thr127Ala
Conflicting
Single submitter
pontocerebellar hypoplasia, type 14
-
PPIL1 p.Val145Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All PPIL1 variants
Pathogenic/Likely pathogenic 2
- p.Ala99Thr No assertion criteria Congenital pontocerebellar hypoplasia
- p.Thr107Ala No assertion criteria Congenital pontocerebellar hypoplasia
Likely pathogenic 8
- c.280+1G>A Single submitter pontocerebellar hypoplasia, type 14
- p.Arg45Ter Single submitter neurodevelopmental disorder
- p.Val14fs Single submitter pontocerebellar hypoplasia, type 14
- p.Ala101_Asp106dup No assertion criteria Congenital pontocerebellar hypoplasia
- p.Arg131Gln No assertion criteria Congenital pontocerebellar hypoplasia ⚠
- p.Gly109Cys No assertion criteria Congenital pontocerebellar hypoplasia
- p.Phe82Ser No assertion criteria Congenital pontocerebellar hypoplasia
- p.Tyr78Cys No assertion criteria Congenital pontocerebellar hypoplasia
Conflicting classifications of pathogenicity 1
- p.Thr127Ala Single submitter pontocerebellar hypoplasia, type 14 ⚠
Benign 1
- c.281-6C>T Single submitter
Uncertain significance 26
- p.Ala117Asp Single submitter pontocerebellar hypoplasia, type 14 ⚠
- p.Ala117Thr Single submitter pontocerebellar hypoplasia, type 14 ⚠
- p.Arg141Cys Single submitter Inborn genetic diseases ⚠
- p.Arg44Cys Single submitter Inborn genetic diseases ⚠
- p.Arg44Leu Single submitter Inborn genetic diseases ⚠
- p.Asn102Ile Single submitter Inborn genetic diseases ⚠
- p.Asn102Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn13Ser Single submitter Inborn genetic diseases ⚠
- p.Asp106Asn Single submitter pontocerebellar hypoplasia, type 14 ⚠
- p.Asp123Glu Single submitter Inborn genetic diseases ⚠
- p.Asp66Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln63Pro Single submitter pontocerebellar hypoplasia, type 14 ⚠
- p.Glu85Gly Single submitter ⚠
- p.Gly135Arg Single submitter ⚠
- p.Gly166Arg Single submitter Inborn genetic diseases ⚠
- p.Ile4Val Single submitter Inborn genetic diseases ⚠
- p.Lys125Asn Single submitter Inborn genetic diseases ⚠
- p.Lys158Arg Single submitter Inborn genetic diseases ⚠
- p.Pro164Ser Single submitter Inborn genetic diseases ⚠
- p.Thr115Asn Single submitter pontocerebellar hypoplasia, type 14 ⚠
- p.Thr119Ile Single submitter Inborn genetic diseases ⚠
- p.Thr35Ile Single submitter Inborn genetic diseases ⚠
- p.Thr93Pro Single submitter pontocerebellar hypoplasia, type 14 ⚠
- p.Thr93Ser Single submitter ⚠
- p.Trp29Cys Single submitter Inborn genetic diseases ⚠
- p.Val145Ile Single submitter Inborn genetic diseases ⚠