SNIP1 — 122 ClinVar variants
All ClinVar germline SNIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
4 Conflicting · 2 Benign · 41 Likely benign · 75 Uncertain significance
Full SNIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SNIP1 p.Glu366Gly
Conflicting
Single submitter
psychomotor retardation, epilepsy, and craniofacial dysmorphism
- SNIP1 p.Glu387Asp Conflicting Single submitter
- SNIP1 p.Ile379Val Conflicting Single submitter
- SNIP1 p.Pro78Ala Conflicting Single submitter
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.
- SNIP1 p.Asp20Gly Uncertain significance Multiple submitters
- SNIP1 p.Asp383Gly Uncertain significance Multiple submitters
-
SNIP1 p.Asp386Asn
Uncertain significance
Multiple submitters
psychomotor retardation, epilepsy, and craniofacial dysmorphism
- SNIP1 p.Asp386Glu Uncertain significance Multiple submitters
- SNIP1 p.Glu385Lys Uncertain significance Multiple submitters
- SNIP1 p.Gly11Arg Uncertain significance Multiple submitters
- SNIP1 p.His143Arg Uncertain significance Multiple submitters
- SNIP1 p.Lys90Thr Uncertain significance Multiple submitters
- SNIP1 p.Pro46Ser Uncertain significance Multiple submitters
- SNIP1 p.Ser373Leu Uncertain significance Multiple submitters
- SNIP1 p.Ala25Val Uncertain significance Single submitter
- SNIP1 p.Ala39Ser Uncertain significance Single submitter
- SNIP1 p.Ala42Val Uncertain significance Single submitter
- SNIP1 p.Arg14Leu Uncertain significance Single submitter
- SNIP1 p.Arg365Lys Uncertain significance Single submitter
- SNIP1 p.Arg88Ser Uncertain significance Single submitter
- SNIP1 p.Arg8Leu Uncertain significance Single submitter
- SNIP1 p.Arg93His Uncertain significance Single submitter
- SNIP1 p.Arg93Ser Uncertain significance Single submitter
- SNIP1 p.Arg98Gln Uncertain significance Single submitter
-
SNIP1 p.Asp113Tyr
Uncertain significance
Single submitter
psychomotor retardation, epilepsy, and craniofacial dysmorphism
- SNIP1 p.Asp20Glu Uncertain significance Single submitter
- SNIP1 p.Gln31Pro Uncertain significance Single submitter
- SNIP1 p.Glu37Gly Uncertain significance Single submitter
- SNIP1 p.Glu392Val Uncertain significance Single submitter
- SNIP1 p.Gly197Val Uncertain significance Single submitter
- SNIP1 p.Gly199Ser Uncertain significance Single submitter
- SNIP1 p.Gly26Val Uncertain significance Single submitter
- SNIP1 p.Gly50Ala Uncertain significance Single submitter
- SNIP1 p.Gly50Arg Uncertain significance Single submitter
- SNIP1 p.Gly72Arg Uncertain significance Single submitter
- SNIP1 p.His102Arg Uncertain significance Single submitter
- SNIP1 p.His102Gln Uncertain significance Single submitter
- SNIP1 p.His43Tyr Uncertain significance Single submitter
- SNIP1 p.His65Tyr Uncertain significance Single submitter
- SNIP1 p.Leu331Phe Uncertain significance Single submitter
- SNIP1 p.Leu352Pro Uncertain significance Single submitter
- SNIP1 p.Leu369Ser Uncertain significance Single submitter
- SNIP1 p.Lys382Arg Uncertain significance Single submitter
- SNIP1 p.Pro41Ser Uncertain significance Single submitter
- SNIP1 p.Ser200Arg Uncertain significance Single submitter
- SNIP1 p.Ser374Leu Uncertain significance Single submitter
- SNIP1 p.Ser91Thr Uncertain significance Single submitter
- SNIP1 p.Trp259Arg Uncertain significance Single submitter
- SNIP1 p.Tyr313His Uncertain significance Single submitter
- SNIP1 p.Val29Leu Uncertain significance Single submitter
- SNIP1 p.Val393Ala Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- SNIP1 p.Arg144Trp Uncertain significance Multiple submitters
- SNIP1 p.Arg322Gln Uncertain significance Multiple submitters
- SNIP1 p.Glu32Ala Uncertain significance Multiple submitters
-
SNIP1 p.Leu352Val
Uncertain significance
Multiple submitters
psychomotor retardation, epilepsy, and craniofacial dysmorphism
- SNIP1 p.Arg315His Uncertain significance Single submitter
- SNIP1 p.Arg45Cys Uncertain significance Single submitter
- SNIP1 p.Arg8Trp Uncertain significance Single submitter
- SNIP1 p.Arg93Cys Uncertain significance Single submitter
- SNIP1 p.Asp375Gly Uncertain significance Single submitter
- SNIP1 p.Glu32Lys Uncertain significance Single submitter
- SNIP1 p.Glu389Lys Uncertain significance Single submitter
- SNIP1 p.Leu370Phe Uncertain significance Single submitter
-
SNIP1 p.Phe362Tyr
Uncertain significance
Single submitter
psychomotor retardation, epilepsy, and craniofacial dysmorphism
- SNIP1 p.Ser35Asn Likely benign Single submitter
- SNIP1 p.Ser76Phe Uncertain significance Single submitter
All SNIP1 variants
Conflicting classifications of pathogenicity 4
- p.Glu366Gly Single submitter psychomotor retardation, epilepsy, and craniofacial dysmorphism ⚠
- p.Glu387Asp Single submitter ⚠
- p.Ile379Val Single submitter ⚠
- p.Pro78Ala Single submitter ⚠
Benign 2
- p.Val28= Multiple submitters psychomotor retardation, epilepsy, and craniofacial dysmorphism
- c.927-8del Single submitter
Likely benign 41
- p.Arg71= Multiple submitters
- p.Pro41= Multiple submitters
- c.224+11G>T Single submitter
- c.224+12A>C Single submitter
- c.224+7G>C Single submitter
- c.224+7G>T Single submitter
- c.327+6_327+7insCCTCACCACTCAACAGTCAAAGTGAAGCACTCAACATCAAA Single submitter
- c.327+8G>T Single submitter
- c.927-13T>C Single submitter
- c.927-14T>C Single submitter
- c.927-15C>T Single submitter
- c.927-4C>T Single submitter
- c.927-5G>A Single submitter
- c.927-5G>T Single submitter
- p.Ala42= Single submitter
- p.Arg33= Single submitter
- p.Asn97= Single submitter
- p.Asp194= Single submitter
- p.Asp384= Single submitter
- p.Glu390= Single submitter
- p.Gly19= Single submitter
- p.Gly86= Single submitter
- p.His16= Single submitter
- p.His371= Single submitter
- p.Lys325= Single submitter
- p.Lys353= Single submitter
- p.Lys382= Single submitter
- p.Lys90= Single submitter
- p.Pro346= Single submitter
- p.Ser35Asn Single submitter ⚠
- p.Ser373= Single submitter
- p.Ser374= Single submitter
- p.Ser49= Single submitter
- p.Ser76= Single submitter
- p.Thr152= Single submitter
- p.Tyr327= Single submitter
- p.Tyr349= Single submitter
- p.Tyr350= Single submitter
- p.Tyr367= Single submitter
- p.Val357= Single submitter
- p.Val38= Single submitter
Uncertain significance 75
- p.Arg144Trp Multiple submitters ⚠
- p.Arg322Gln Multiple submitters ⚠
- p.Asp20Gly Multiple submitters ⚠
- p.Asp383Gly Multiple submitters ⚠
- p.Asp386Asn Multiple submitters psychomotor retardation, epilepsy, and craniofacial dysmorphism ⚠
- p.Asp386Glu Multiple submitters ⚠
- p.Glu32Ala Multiple submitters ⚠
- p.Glu385Lys Multiple submitters ⚠
- p.Gly11Arg Multiple submitters ⚠
- p.His143Arg Multiple submitters ⚠
- p.Leu352Val Multiple submitters psychomotor retardation, epilepsy, and craniofacial dysmorphism ⚠
- p.Lys90Thr Multiple submitters ⚠
- p.Pro46Ser Multiple submitters ⚠
- p.Ser373Leu Multiple submitters ⚠
- c.224+5G>C Single submitter
- c.327+5G>C Single submitter
- c.327+6T>C Single submitter
- p.384DE[1] Single submitter
- p.Ala25Val Single submitter ⚠
- p.Ala39Ser Single submitter ⚠
- p.Ala42Val Single submitter ⚠
- p.Arg14Leu Single submitter ⚠
- p.Arg14Ter Single submitter
- p.Arg315His Single submitter ⚠
- p.Arg365Lys Single submitter ⚠
- p.Arg45Cys Single submitter ⚠
- p.Arg88del Single submitter
- p.Arg88Ser Single submitter ⚠
- p.Arg8Leu Single submitter ⚠
- p.Arg8Trp Single submitter ⚠
- p.Arg93Cys Single submitter ⚠
- p.Arg93His Single submitter ⚠
- p.Arg93Ser Single submitter ⚠
- p.Arg98Gln Single submitter ⚠
- p.Asp113Tyr Single submitter psychomotor retardation, epilepsy, and craniofacial dysmorphism ⚠
- p.Asp20Glu Single submitter ⚠
- p.Asp375Gly Single submitter ⚠
- p.Asp380fs Single submitter psychomotor retardation, epilepsy, and craniofacial dysmorphism
- p.Asp386del Single submitter
- p.Gln31Pro Single submitter ⚠
- p.Glu32Lys Single submitter ⚠
- p.Glu354fs Single submitter
- p.Glu37Gly Single submitter ⚠
- p.Glu389Lys Single submitter ⚠
- p.Glu392del Single submitter
- p.Glu392Val Single submitter ⚠
- p.Gly197Val Single submitter ⚠
- p.Gly199Ser Single submitter ⚠
- p.Gly26Val Single submitter ⚠
- p.Gly50Ala Single submitter ⚠
- p.Gly50Arg Single submitter ⚠
- p.Gly72Arg Single submitter ⚠
- p.His102Arg Single submitter ⚠
- p.His102Gln Single submitter ⚠
- p.His43Tyr Single submitter ⚠
- p.His65Tyr Single submitter ⚠
- p.Leu331Phe Single submitter ⚠
- p.Leu352Pro Single submitter ⚠
- p.Leu369Ser Single submitter ⚠
- p.Leu370Phe Single submitter ⚠
- p.Lys106Ter Single submitter
- p.Lys355fs Single submitter
- p.Lys382Arg Single submitter ⚠
- p.Phe362Tyr Single submitter psychomotor retardation, epilepsy, and craniofacial dysmorphism ⚠
- p.Pro41Ser Single submitter ⚠
- p.Ser200Arg Single submitter ⚠
- p.Ser374Leu Single submitter ⚠
- p.Ser76Phe Single submitter ⚠
- p.Ser91Thr Single submitter ⚠
- p.Thr314Ile Single submitter
- p.Trp259Arg Single submitter ⚠
- p.Tyr313His Single submitter ⚠
- p.Val29Leu Single submitter ⚠
- p.Val311Met Single submitter
- p.Val393Ala Single submitter ⚠