SSR4 — 131 ClinVar variants
All ClinVar germline SSR4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
11 Pathogenic · 6 Likely pathogenic · 2 Conflicting · 11 Benign · 3 Benign/Likely benign · 43 Likely benign · 55 Uncertain significance
Full SSR4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SSR4 p.Ala11Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SSR4 p.Ala154Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SSR4 p.Ala97Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SSR4 p.Arg105Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SSR4 p.Ile43Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SSR4 p.Ser166Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SSR4 p.Thr141Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SSR4 p.Val48Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SSR4 p.Ala155Thr Uncertain significance Single submitter
-
SSR4 p.Ala65Val
Uncertain significance
Single submitter
SSR4-congenital disorder of glycosylation
-
SSR4 p.Ala99Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SSR4 p.Ala9Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SSR4 p.Asn143Lys
Uncertain significance
Single submitter
SSR4-congenital disorder of glycosylation
- SSR4 p.Asn59Tyr Uncertain significance Single submitter
- SSR4 p.Asp137Asn Uncertain significance Single submitter
-
SSR4 p.Asp93Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SSR4 p.Gln62Arg Uncertain significance Single submitter
-
SSR4 p.Glu24Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SSR4 p.Gly144Arg Uncertain significance Single submitter
- SSR4 p.His170Arg Uncertain significance Single submitter
- SSR4 p.Ile160Met Uncertain significance Single submitter
-
SSR4 p.Ile160Val
Uncertain significance
Single submitter
SSR4-related disorder
- SSR4 p.Ile31Met Uncertain significance Single submitter
-
SSR4 p.Leu158Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SSR4 p.Lys95Arg Uncertain significance Single submitter
- SSR4 p.Pro145Thr Uncertain significance Single submitter
- SSR4 p.Pro33Ser Uncertain significance Single submitter
- SSR4 p.Ser111Phe Uncertain significance Single submitter
- SSR4 p.Ser166Asn Uncertain significance Single submitter
- SSR4 p.Ser169Arg Uncertain significance Single submitter
-
SSR4 p.Ser6Phe
Uncertain significance
Single submitter
SSR4-congenital disorder of glycosylation
-
SSR4 p.Tyr161Cys
Uncertain significance
Single submitter
SSR4-congenital disorder of glycosylation
-
SSR4 p.Val70Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SSR4 p.Val83Leu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 12
The independent predictors disagree with each other — read with care.
- SSR4 p.Asp108Glu Uncertain significance Single submitter
- SSR4 p.Asp40Glu Uncertain significance Single submitter
-
SSR4 p.Glu109Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SSR4 p.Glu46Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SSR4 p.Gly100Asp Uncertain significance Single submitter
-
SSR4 p.Gly84Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SSR4 p.Leu27Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SSR4 p.Lys168Asn Uncertain significance Single submitter
- SSR4 p.Phe165Leu Uncertain significance Single submitter
-
SSR4 p.Pro33Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SSR4 p.Tyr86Phe Uncertain significance Single submitter
-
SSR4 p.Pro130Ser
Uncertain significance
No assertion criteria
SSR4-related disorder
All SSR4 variants
Pathogenic 11
- c.68-2A>G Single submitter SSR4-congenital disorder of glycosylation
- p.Gln62Ter Single submitter
- p.Val48fs Single submitter SSR4-congenital disorder of glycosylation
- c.1_185del No assertion criteria SSR4-congenital disorder of glycosylation
- c.187-301_352-15del No assertion criteria SSR4-congenital disorder of glycosylation
- c.261+2_261+8del No assertion criteria SSR4-congenital disorder of glycosylation
- c.418-1G>A No assertion criteria SSR4-congenital disorder of glycosylation
- c.68-322_262-46del No assertion criteria SSR4-congenital disorder of glycosylation
- p.Gln81Ter No assertion criteria SSR4-congenital disorder of glycosylation
- p.Phe106fs No assertion criteria SSR4-congenital disorder of glycosylation
- p.Trp90Ter No assertion criteria SSR4-congenital disorder of glycosylation
Likely pathogenic 6
- c.19+2T>C Single submitter
- c.418-2A>G Single submitter SSR4-congenital disorder of glycosylation
- c.67+2T>C Single submitter Inborn genetic diseases
- p.Arg120fs Single submitter SSR4-congenital disorder of glycosylation
- p.Arg79Ter Single submitter SSR4-congenital disorder of glycosylation
- p.Pro33fs Single submitter SSR4-congenital disorder of glycosylation
Conflicting classifications of pathogenicity 2
- c.417+1G>A Single submitter SSR4-congenital disorder of glycosylation
- p.Val136Met Single submitter Inborn genetic diseases
Benign 11
- c.187-141T>C Multiple submitters
- c.187-60G>A Multiple submitters
- c.352-11C>G Multiple submitters
- c.68-114A>G Multiple submitters
- c.68-333G>C Multiple submitters
- c.20-7C>T Single submitter
- c.261+15G>A Single submitter
- c.418-12_418-10del Single submitter
- c.-26A>C Single submitter
- p.His98= Single submitter
- p.Phe165Tyr Single submitter
Benign/Likely benign 3
- c.352-13A>G Multiple submitters
- c.352-18C>T Multiple submitters
- p.Asp40= Multiple submitters
Likely benign 43
- c.187-9C>T Multiple submitters
- c.351+19C>T Multiple submitters
- c.352-8C>T Multiple submitters
- c.68-5C>T Multiple submitters
- p.Asn122= Multiple submitters
- p.Asp69= Multiple submitters
- p.Gly71Ser Multiple submitters Inborn genetic diseases
- p.Val70= Multiple submitters
- c.186+12G>A Single submitter
- c.186+14G>A Single submitter
- c.186+6A>G Single submitter
- c.187-23C>T Single submitter
- c.20-18C>T Single submitter
- c.20-21G>A Single submitter
- c.20-38_20-12dup Single submitter
- c.351+15A>T Single submitter
- c.351+18C>T Single submitter
- c.351+8C>G Single submitter
- c.352-26GCACCTCCCTT[3] Single submitter
- c.352-9C>T Single submitter
- c.417+16CCT[2] Single submitter
- c.68-11C>T Single submitter
- c.68-172T>C Single submitter
- c.68-4G>A Single submitter
- c.-1G>A Single submitter
- c.*2G>A Single submitter
- p.Ala155= Single submitter
- p.Ala5_Ser6insAlaMetAla Single submitter
- p.Arg60= Single submitter
- p.Asp108= Single submitter
- p.Cys21= Single submitter
- p.Gln172= Single submitter
- p.Gln74= Single submitter
- p.Leu27= Single submitter
- p.Leu92= Single submitter
- p.Phe107= Single submitter
- p.Pro129= Single submitter
- p.Ser166= Single submitter
- p.Ser44= Single submitter
- p.Ser91= Single submitter
- p.Ser96= Single submitter
- p.Thr47= Single submitter
- p.Leu13= No assertion criteria SSR4-related disorder
Uncertain significance 55
- p.Ala11Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala154Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala97Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg105Lys Multiple submitters Inborn genetic diseases ⚠
- p.Ile43Val Multiple submitters Inborn genetic diseases ⚠
- p.Ser166Gly Multiple submitters Inborn genetic diseases ⚠
- p.Thr141Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val48Ile Multiple submitters Inborn genetic diseases ⚠
- c.262-3C>G Single submitter SSR4-congenital disorder of glycosylation
- c.352-26GCACCTCCCTT[4] Single submitter
- c.417+15C>T Single submitter
- c.417+3G>A Single submitter
- c.-14G>T Single submitter SSR4-related disorder
- p.Ala155Thr Single submitter ⚠
- p.Ala65Val Single submitter SSR4-congenital disorder of glycosylation ⚠
- p.Ala99Thr Single submitter Inborn genetic diseases ⚠
- p.Ala9Val Single submitter Inborn genetic diseases ⚠
- p.Asn143Lys Single submitter SSR4-congenital disorder of glycosylation ⚠
- p.Asn59Tyr Single submitter ⚠
- p.Asp108Asn Single submitter
- p.Asp108Glu Single submitter ⚠
- p.Asp137Asn Single submitter ⚠
- p.Asp40Glu Single submitter ⚠
- p.Asp93Gly Single submitter Inborn genetic diseases ⚠
- p.Gln62Arg Single submitter ⚠
- p.Glu109Asp Single submitter Inborn genetic diseases ⚠
- p.Glu123Lys Single submitter Inborn genetic diseases
- p.Glu24Lys Single submitter Inborn genetic diseases ⚠
- p.Glu46Lys Single submitter Inborn genetic diseases ⚠
- p.Gly100Asp Single submitter ⚠
- p.Gly144Arg Single submitter ⚠
- p.Gly84Glu Single submitter Inborn genetic diseases ⚠
- p.His170Arg Single submitter ⚠
- p.Ile160Met Single submitter ⚠
- p.Ile160Val Single submitter SSR4-related disorder ⚠
- p.Ile31Met Single submitter ⚠
- p.Leu158Phe Single submitter Inborn genetic diseases ⚠
- p.Leu27Pro Single submitter Inborn genetic diseases ⚠
- p.Lys168Asn Single submitter ⚠
- p.Lys95Arg Single submitter ⚠
- p.Phe165Leu Single submitter ⚠
- p.Pro145Leu Single submitter
- p.Pro145Thr Single submitter ⚠
- p.Pro33Arg Single submitter Inborn genetic diseases ⚠
- p.Pro33Ser Single submitter ⚠
- p.Pro5Arg Single submitter
- p.Ser111Phe Single submitter ⚠
- p.Ser166Asn Single submitter ⚠
- p.Ser169Arg Single submitter ⚠
- p.Ser6Phe Single submitter SSR4-congenital disorder of glycosylation ⚠
- p.Tyr161Cys Single submitter SSR4-congenital disorder of glycosylation ⚠
- p.Tyr86Phe Single submitter ⚠
- p.Val70Ile Single submitter Inborn genetic diseases ⚠
- p.Val83Leu Single submitter Inborn genetic diseases ⚠
- p.Pro130Ser No assertion criteria SSR4-related disorder ⚠