Sugi Variant

Sugi Variant/SDCCAG8

SDCCAG8 — 790 ClinVar variants

All ClinVar germline SDCCAG8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 334 flagged for review →

37 Pathogenic · 12 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 33 Conflicting · 21 Benign · 8 Benign/Likely benign · 244 Likely benign · 391 Uncertain significance

Full SDCCAG8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 334

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 11

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 284

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 284

Predictors split 39

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

All SDCCAG8 variants

Pathogenic 37

Pathogenic/Likely pathogenic 12

  • c.740+356C>T Multiple submitters Senior-Loken syndrome 7
  • p.Arg374Ter Multiple submitters Senior-Loken syndrome 7
  • p.Gln169fs Multiple submitters Senior-Loken syndrome 7
  • p.Gln383Ter Multiple submitters Senior-Loken syndrome 7
  • p.Gln573Ter Multiple submitters Senior-Loken syndrome 7
  • p.Glu171Ter Multiple submitters Senior-Loken syndrome 7
  • p.Glu175Ter Multiple submitters Bardet-Biedl syndrome 16
  • p.Glu519fs Multiple submitters Senior-Loken syndrome 7
  • p.Glu526fs Multiple submitters Senior-Loken syndrome 7
  • p.Thr329fs Multiple submitters Senior-Loken syndrome 7
  • p.Trp189Ter Multiple submitters Senior-Loken syndrome 7
  • p.Tyr232Ter Multiple submitters Senior-Loken syndrome 7

Likely pathogenic 44

  • c.1356+1G>C Multiple submitters Bardet-Biedl syndrome
  • c.420+1G>C Multiple submitters Bardet-Biedl syndrome 16
  • c.546+1G>A Multiple submitters Senior-Loken syndrome 7
  • c.1069_1356del Single submitter Bardet-Biedl syndrome 16
  • c.1357-2A>G Single submitter Senior-Loken syndrome 7
  • c.1617-1G>A Single submitter Bardet-Biedl syndrome 16
  • c.1745-2A>G Single submitter Senior-Loken syndrome 7
  • c.1853+2T>A Single submitter Senior-Loken syndrome 7
  • c.1853+2T>C Single submitter Bardet-Biedl syndrome 16
  • c.1985+1G>T Single submitter Senior-Loken syndrome 7
  • c.221-1G>A Single submitter Senior-Loken syndrome 7
  • c.307-1G>A Single submitter Senior-Loken syndrome 7
  • c.307-1G>C Single submitter Senior-Loken syndrome 7
  • c.420+1G>A Single submitter Bardet-Biedl syndrome 16
  • c.547-1G>A Single submitter Senior-Loken syndrome 7
  • c.675+1G>A Single submitter Senior-Loken syndrome 7
  • c.676-2A>G Single submitter Senior-Loken syndrome 7
  • c.741-2A>G Single submitter Senior-Loken syndrome 7
  • c.930-2A>C Single submitter Senior-Loken syndrome 7
  • p.Ala372fs Single submitter Bardet-Biedl syndrome 16
  • p.Asn583fs Single submitter Bardet-Biedl syndrome
  • p.Gln16fs Single submitter Senior-Loken syndrome 7
  • p.Gln442fs Single submitter Senior-Loken syndrome 7
  • p.Gln540Ter Single submitter Senior-Loken syndrome 7
  • p.Gln569Ter Single submitter Senior-Loken syndrome 7
  • p.Gln615Ter Single submitter Bardet-Biedl syndrome 16
  • p.Gln648fs Single submitter Senior-Loken syndrome 7
  • p.Gln648Ter Single submitter Bardet-Biedl syndrome 16
  • p.Glu378fs Single submitter
  • p.Gly280fs Single submitter Senior-Loken syndrome 7
  • p.Leu102Ter Single submitter
  • p.Leu326fs Single submitter Senior-Loken syndrome 7
  • p.Lys235fs Single submitter Senior-Loken syndrome 7
  • p.Lys609fs Single submitter Senior-Loken syndrome 7
  • p.Lys637fs Single submitter Senior-Loken syndrome 7
  • p.Met1Ile Single submitter Senior-Loken syndrome 7
  • p.Met1Leu Single submitter Senior-Loken syndrome 7
  • p.Ser166fs Single submitter focal segmental glomerulosclerosis
  • p.Thr9fs Single submitter Senior-Loken syndrome 7
  • p.Val292fs Single submitter Bardet-Biedl syndrome
  • c.1744+2T>C No assertion criteria SDCCAG8-related disorder
  • p.Asp485fs No assertion criteria SDCCAG8-related disorder
  • p.Gln382fs No assertion criteria SDCCAG8-related disorder
  • p.Thr355fs No assertion criteria SDCCAG8-related disorder

Conflicting classifications of pathogenicity 33

Benign 21

Benign/Likely benign 8

  • c.2113-5del Multiple submitters Senior-Loken syndrome 7
  • c.929+18C>T Multiple submitters Senior-Loken syndrome 7
  • p.Arg365Thr Multiple submitters Senior-Loken syndrome 7
  • p.Glu378Asp Multiple submitters Bardet-Biedl syndrome 16
  • p.His266= Multiple submitters Senior-Loken syndrome 7
  • p.Leu587= Multiple submitters Senior-Loken syndrome 7
  • p.Pro93= Multiple submitters Senior-Loken syndrome 7
  • p.Thr329Met Multiple submitters Bardet-Biedl syndrome 16

Likely benign 244

  • c.1474-20T>C Multiple submitters Bardet-Biedl syndrome 16
  • c.1616+20T>C Multiple submitters Bardet-Biedl syndrome 16
  • c.1617-5T>C Multiple submitters Senior-Loken syndrome 7
  • c.1744+20T>G Multiple submitters Bardet-Biedl syndrome 16
  • c.1853+14T>C Multiple submitters Bardet-Biedl syndrome 16
  • c.1853+20A>C Multiple submitters Senior-Loken syndrome 7
  • c.1985+17G>A Multiple submitters Bardet-Biedl syndrome 16
  • c.1986-4C>T Multiple submitters Senior-Loken syndrome 7
  • c.1986-6C>T Multiple submitters Senior-Loken syndrome 7
  • c.2112+17G>A Multiple submitters Senior-Loken syndrome 7
  • c.220+20C>T Multiple submitters Senior-Loken syndrome 7
  • c.221-13T>C Multiple submitters Bardet-Biedl syndrome 16
  • c.221-4A>G Multiple submitters Senior-Loken syndrome 7
  • c.306+8T>C Multiple submitters Senior-Loken syndrome 7
  • c.421-16G>T Multiple submitters Senior-Loken syndrome 7
  • c.547-11T>A Multiple submitters Senior-Loken syndrome 7
  • c.67+20T>C Multiple submitters Senior-Loken syndrome 7
  • c.740+11A>C Multiple submitters Bardet-Biedl syndrome 16
  • c.740+14G>A Multiple submitters Senior-Loken syndrome 7
  • c.929+16C>T Multiple submitters Bardet-Biedl syndrome 16
  • c.929+17G>A Multiple submitters Senior-Loken syndrome 7
  • c.929+19G>A Multiple submitters Senior-Loken syndrome 7
  • p.Ala357= Multiple submitters Bardet-Biedl syndrome 16
  • p.Ala372= Multiple submitters Bardet-Biedl syndrome 16
  • p.Arg332= Multiple submitters Bardet-Biedl syndrome 16
  • p.Arg365Lys Multiple submitters Inborn genetic diseases
  • p.Asn685= Multiple submitters Senior-Loken syndrome 7
  • p.Asp501= Multiple submitters Senior-Loken syndrome 7
  • p.Asp60= Multiple submitters Bardet-Biedl syndrome 16
  • p.Gln686= Multiple submitters Bardet-Biedl syndrome 16
  • p.Gln69= Multiple submitters Bardet-Biedl syndrome 16
  • p.Glu252= Multiple submitters Bardet-Biedl syndrome 16
  • p.Glu584= Multiple submitters Senior-Loken syndrome 7
  • p.Gly199= Multiple submitters Senior-Loken syndrome 7
  • p.Gly529= Multiple submitters Bardet-Biedl syndrome 16
  • p.His131= Multiple submitters Bardet-Biedl syndrome 16
  • p.Ile305= Multiple submitters Senior-Loken syndrome 7
  • p.Leu243= Multiple submitters Senior-Loken syndrome 7
  • p.Leu645= Multiple submitters Senior-Loken syndrome 7
  • p.Leu663= Multiple submitters Senior-Loken syndrome 7
  • p.Leu677= Multiple submitters Bardet-Biedl syndrome 16
  • p.Lys377= Multiple submitters Bardet-Biedl syndrome 16
  • p.Lys668= Multiple submitters Senior-Loken syndrome 7
  • p.Pro5= Multiple submitters Bardet-Biedl syndrome 16
  • p.Ser166= Multiple submitters Bardet-Biedl syndrome 16
  • p.Thr298= Multiple submitters Senior-Loken syndrome 7
  • p.Thr329= Multiple submitters Senior-Loken syndrome 7
  • p.Tyr632= Multiple submitters Senior-Loken syndrome 7
  • p.Val678= Multiple submitters Bardet-Biedl syndrome 16
  • c.1068+10A>C Single submitter Bardet-Biedl syndrome 16
  • c.1068+17G>A Single submitter Senior-Loken syndrome 7
  • c.1069-8C>T Single submitter Senior-Loken syndrome 7
  • c.1221+11A>G Single submitter Senior-Loken syndrome 7
  • c.1222-12T>G Single submitter Senior-Loken syndrome 7
  • c.1222-16T>C Single submitter Senior-Loken syndrome 7
  • c.1222-9C>T Single submitter Bardet-Biedl syndrome 16
  • c.1356+15T>A Single submitter Bardet-Biedl syndrome 16
  • c.1357-17T>C Single submitter Bardet-Biedl syndrome 16
  • c.1357-20A>G Single submitter Bardet-Biedl syndrome 16
  • c.1357-7C>G Single submitter Bardet-Biedl syndrome 16
  • c.1473+14_1473+21del Single submitter Senior-Loken syndrome 7
  • c.1473+16G>T Single submitter Senior-Loken syndrome 7
  • c.1474-16C>T Single submitter Bardet-Biedl syndrome 16
  • c.1474-19C>T Single submitter Bardet-Biedl syndrome 16
  • c.1474-8T>C Single submitter Bardet-Biedl syndrome 16
  • c.1616+13C>T Single submitter Bardet-Biedl syndrome 16
  • c.1616+14C>G Single submitter Bardet-Biedl syndrome 16
  • c.1616+19A>G Single submitter Senior-Loken syndrome 7
  • c.1617-15C>T Single submitter Senior-Loken syndrome 7
  • c.1617-16C>G Single submitter Senior-Loken syndrome 7
  • c.1617-16C>T Single submitter Senior-Loken syndrome 7
  • c.1744+12G>A Single submitter Bardet-Biedl syndrome 16
  • c.1744+9T>C Single submitter Senior-Loken syndrome 7
  • c.1745-13T>C Single submitter Senior-Loken syndrome 7
  • c.1745-14A>C Single submitter Bardet-Biedl syndrome 16
  • c.1745-20G>C Single submitter Senior-Loken syndrome 7
  • c.1745-6T>C Single submitter Senior-Loken syndrome 7
  • c.1745-8A>T Single submitter Bardet-Biedl syndrome 16
  • c.1853+13A>G Single submitter Senior-Loken syndrome 7
  • c.1853+14del Single submitter Senior-Loken syndrome 7
  • c.1854-18T>C Single submitter Senior-Loken syndrome 7
  • c.1854-6C>T Single submitter Bardet-Biedl syndrome 16
  • c.1854-7C>T Single submitter Senior-Loken syndrome 7
  • c.1985+14C>T Single submitter Senior-Loken syndrome 7
  • c.1985+15A>G Single submitter Senior-Loken syndrome 7
  • c.1985+18T>G Single submitter Senior-Loken syndrome 7
  • c.1986-17G>C Single submitter Senior-Loken syndrome 7
  • c.2112+11G>C Single submitter Bardet-Biedl syndrome 16
  • c.2112+20G>A Single submitter Bardet-Biedl syndrome 16
  • c.2112+8G>A Single submitter Senior-Loken syndrome 7
  • c.2113-11_2113-8dup Single submitter Bardet-Biedl syndrome 16
  • c.2113-20C>T Single submitter Senior-Loken syndrome 7
  • c.220+7G>A Single submitter Senior-Loken syndrome 7
  • c.221-10T>C Single submitter Senior-Loken syndrome 7
  • c.221-14del Single submitter Bardet-Biedl syndrome 16
  • c.306+12C>T Single submitter Bardet-Biedl syndrome 16
  • c.306+17C>T Single submitter Senior-Loken syndrome 7
  • c.307-4A>G Single submitter Senior-Loken syndrome 7
  • c.420+11C>T Single submitter Bardet-Biedl syndrome 16
  • c.420+20T>C Single submitter Senior-Loken syndrome 7
  • c.420+8T>C Single submitter Senior-Loken syndrome 7
  • c.421-11_421-8del Single submitter Bardet-Biedl syndrome 16
  • c.546+11T>C Single submitter Bardet-Biedl syndrome 16
  • c.546+19C>T Single submitter Senior-Loken syndrome 7
  • c.547-13C>T Single submitter Bardet-Biedl syndrome 16
  • c.67+10T>C Single submitter Senior-Loken syndrome 7
  • c.67+16C>T Single submitter Senior-Loken syndrome 7
  • c.67+17C>G Single submitter Senior-Loken syndrome 7
  • c.67+17CT[3] Single submitter Bardet-Biedl syndrome 16
  • c.67+18T>G Single submitter Senior-Loken syndrome 7
  • c.67+20T>G Single submitter Bardet-Biedl syndrome 16
  • c.676-9T>C Single submitter Bardet-Biedl syndrome 16
  • c.68-14G>C Single submitter Senior-Loken syndrome 7
  • c.68-17T>C Single submitter Senior-Loken syndrome 7
  • c.68-18G>A Single submitter Bardet-Biedl syndrome 16
  • c.68-19C>T Single submitter Bardet-Biedl syndrome 16
  • c.68-20T>C Single submitter Senior-Loken syndrome 7
  • c.740+16C>G Single submitter Senior-Loken syndrome 7
  • c.740+18A>C Single submitter Bardet-Biedl syndrome 16
  • c.740+7T>A Single submitter Senior-Loken syndrome 7
  • c.741-14C>G Single submitter Senior-Loken syndrome 7
  • c.741-476T>G Single submitter
  • c.929+13C>G Single submitter Senior-Loken syndrome 7
  • c.930-10G>T Single submitter
  • c.930-17T>C Single submitter Bardet-Biedl syndrome 16
  • c.930-4A>T Single submitter Senior-Loken syndrome 7
  • c.930-7del Single submitter Senior-Loken syndrome 7
  • c.-4G>A Single submitter Bardet-Biedl syndrome 16
  • p.Ala181= Single submitter Senior-Loken syndrome 7
  • p.Ala219= Single submitter Senior-Loken syndrome 7
  • p.Ala327= Single submitter Senior-Loken syndrome 7
  • p.Ala420= Single submitter Senior-Loken syndrome 7
  • p.Ala432= Single submitter Senior-Loken syndrome 7
  • p.Ala514= Single submitter Senior-Loken syndrome 7
  • p.Ala517= Single submitter
  • p.Ala557= Single submitter Senior-Loken syndrome 7
  • p.Ala576= Single submitter Senior-Loken syndrome 7
  • p.Ala85= Single submitter Bardet-Biedl syndrome 16
  • p.Arg365= Single submitter Senior-Loken syndrome 7
  • p.Arg446= Single submitter Senior-Loken syndrome 7
  • p.Arg484= Single submitter Senior-Loken syndrome 7
  • p.Arg629= Single submitter Bardet-Biedl syndrome 16
  • p.Arg691= Single submitter Bardet-Biedl syndrome 16
  • p.Arg700= Single submitter Senior-Loken syndrome 7
  • p.Arg702= Single submitter Senior-Loken syndrome 7
  • p.Asn157= Single submitter Bardet-Biedl syndrome 16
  • p.Asn351= Single submitter Bardet-Biedl syndrome 16
  • p.Asn483= Single submitter Senior-Loken syndrome 7
  • p.Asp362= Single submitter Senior-Loken syndrome 7
  • p.Asp46= Single submitter Senior-Loken syndrome 7
  • p.Cys286= Single submitter Bardet-Biedl syndrome 16
  • p.Gln151= Single submitter Bardet-Biedl syndrome 16
  • p.Gln16= Single submitter Senior-Loken syndrome 7
  • p.Gln167= Single submitter Senior-Loken syndrome 7
  • p.Gln31= Single submitter Bardet-Biedl syndrome 16
  • p.Gln417= Single submitter Senior-Loken syndrome 7
  • p.Gln421= Single submitter Senior-Loken syndrome 7
  • p.Gln509= Single submitter Senior-Loken syndrome 7
  • p.Gln540= Single submitter Senior-Loken syndrome 7
  • p.Gln561= Single submitter Senior-Loken syndrome 7
  • p.Gln585= Single submitter Senior-Loken syndrome 7
  • p.Gln671= Single submitter Senior-Loken syndrome 7
  • p.Gln676= Single submitter Senior-Loken syndrome 7
  • p.Glu311= Single submitter Bardet-Biedl syndrome 16
  • p.Glu338= Single submitter Senior-Loken syndrome 7
  • p.Glu428= Single submitter Senior-Loken syndrome 7
  • p.Glu474= Single submitter Senior-Loken syndrome 7
  • p.Glu541= Single submitter Senior-Loken syndrome 7
  • p.Glu611= Single submitter Senior-Loken syndrome 7
  • p.Glu690= Single submitter Senior-Loken syndrome 7
  • p.Glu88= Single submitter Bardet-Biedl syndrome 16
  • p.His208= Single submitter
  • p.His289= Single submitter Senior-Loken syndrome 7
  • p.His297= Single submitter Senior-Loken syndrome 7
  • p.His652= Single submitter Senior-Loken syndrome 7
  • p.His72= Single submitter Senior-Loken syndrome 7
  • p.Ile122= Single submitter Senior-Loken syndrome 7
  • p.Leu10= Single submitter Senior-Loken syndrome 7
  • p.Leu160= Single submitter Bardet-Biedl syndrome 16
  • p.Leu173= Single submitter Bardet-Biedl syndrome 16
  • p.Leu21= Single submitter Senior-Loken syndrome 7
  • p.Leu270= Single submitter Bardet-Biedl syndrome 16
  • p.Leu326= Single submitter Senior-Loken syndrome 7
  • p.Leu379= Single submitter Senior-Loken syndrome 7
  • p.Leu596= Single submitter Senior-Loken syndrome 7
  • p.Leu610= Single submitter Senior-Loken syndrome 7
  • p.Leu635= Single submitter Bardet-Biedl syndrome 16
  • p.Leu638= Single submitter Senior-Loken syndrome 7
  • p.Leu680= Single submitter
  • p.Leu687= Single submitter Senior-Loken syndrome 7
  • p.Lys137= Single submitter
  • p.Lys235= Single submitter Senior-Loken syndrome 7
  • p.Lys489= Single submitter
  • p.Lys551= Single submitter Senior-Loken syndrome 7
  • p.Pro205= Single submitter
  • p.Pro66= Single submitter Senior-Loken syndrome 7
  • p.Ser100= Single submitter Senior-Loken syndrome 7
  • p.Ser126= Single submitter Senior-Loken syndrome 7
  • p.Ser196= Single submitter Senior-Loken syndrome 7
  • p.Ser321= Single submitter Senior-Loken syndrome 7
  • p.Ser4= Single submitter Bardet-Biedl syndrome 16
  • p.Ser695= Single submitter Senior-Loken syndrome 7
  • p.Ser711= Single submitter Senior-Loken syndrome 7
  • p.Thr33= Single submitter Senior-Loken syndrome 7
  • p.Thr398= Single submitter Bardet-Biedl syndrome 16
  • p.Thr538= Single submitter Senior-Loken syndrome 7
  • p.Thr54= Single submitter
  • p.Thr590= Single submitter Bardet-Biedl syndrome 16
  • p.Thr605= Single submitter Bardet-Biedl syndrome 16
  • p.Thr631= Single submitter Senior-Loken syndrome 7
  • p.Val279= Single submitter Senior-Loken syndrome 7
  • p.Val309= Single submitter Bardet-Biedl syndrome 16
  • p.Val56= Single submitter Bardet-Biedl syndrome 16
  • p.Val91= Single submitter
  • c.1069-10A>G No assertion criteria SDCCAG8-related disorder
  • c.1221+8A>C No assertion criteria SDCCAG8-related disorder
  • c.1473+9G>A No assertion criteria SDCCAG8-related disorder
  • c.1616+4C>T No assertion criteria SDCCAG8-related disorder
  • c.1853+4G>A No assertion criteria SDCCAG8-related disorder
  • c.2112+9C>G No assertion criteria SDCCAG8-related disorder
  • c.306+6T>C No assertion criteria SDCCAG8-related disorder
  • c.307-27TATT[3] No assertion criteria SDCCAG8-related disorder
  • c.547-4T>C No assertion criteria SDCCAG8-related disorder
  • c.675+187T>C No assertion criteria SDCCAG8-related disorder
  • c.675+191C>A No assertion criteria SDCCAG8-related disorder
  • c.675+279T>C No assertion criteria SDCCAG8-related disorder
  • c.675+7A>G No assertion criteria SDCCAG8-related disorder
  • c.740+350A>C No assertion criteria SDCCAG8-related disorder
  • c.740+354C>G No assertion criteria SDCCAG8-related disorder
  • c.740+355C>G No assertion criteria SDCCAG8-related disorder
  • c.740+356C>G No assertion criteria SDCCAG8-related disorder
  • c.740+361C>T No assertion criteria SDCCAG8-related disorder
  • c.741-10del No assertion criteria SDCCAG8-related disorder
  • c.741-149G>A No assertion criteria SDCCAG8-related disorder
  • c.741-9T>C No assertion criteria SDCCAG8-related disorder
  • c.930-8G>A No assertion criteria SDCCAG8-related disorder
  • p.Asp633= No assertion criteria SDCCAG8-related disorder
  • p.Asp699= No assertion criteria SDCCAG8-related disorder
  • p.Gln242= No assertion criteria SDCCAG8-related disorder
  • p.Gln612= No assertion criteria SDCCAG8-related disorder
  • p.Gly159= No assertion criteria SDCCAG8-related disorder
  • p.Leu319= No assertion criteria SDCCAG8-related disorder
  • p.Leu77= No assertion criteria SDCCAG8-related disorder
  • p.Thr658= No assertion criteria SDCCAG8-related disorder

Uncertain significance 391

Showing the top 300 by review status; the full set is in the sitemap.