DCN — 98 ClinVar variants
All ClinVar germline DCN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
4 Pathogenic · 1 Likely pathogenic · 3 Conflicting · 15 Benign · 1 Benign/Likely benign · 8 Likely benign · 66 Uncertain significance
Full DCN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DCN p.Ile207Met
Conflicting
Single submitter
congenital stromal corneal dystrophy
-
DCN p.Thr224Met
Conflicting
Single submitter
congenital stromal corneal dystrophy
Predictors lean, ClinVar uncertain 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DCN p.Lys320Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DCN p.Ala238Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Arg350Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Arg350His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Arg44Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Arg57Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Arg63Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Asn171Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Asn211Ser
Uncertain significance
Single submitter
congenital stromal corneal dystrophy
-
DCN p.Asn332Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Asp31Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Asp31Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Asp43Asn
Uncertain significance
Single submitter
congenital stromal corneal dystrophy
-
DCN p.Asp45Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Gln354His
Uncertain significance
Single submitter
congenital stromal corneal dystrophy
-
DCN p.Gln66Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Glu338Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Gly198Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DCN p.Gly286Ser Uncertain significance Single submitter
-
DCN p.His108Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.His270Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Ile215Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Leu299Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DCN p.Leu79Arg Uncertain significance Single submitter
-
DCN p.Leu79Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Lys201Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Pro145Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Pro185Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Pro220Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Pro314Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Pro41Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Pro48Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Ser49Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Thr4Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Tyr293Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Val260Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Val349Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Val40Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 20
The independent predictors disagree with each other — read with care.
-
DCN p.Ile177Phe
Benign
Multiple submitters
congenital stromal corneal dystrophy
-
DCN p.Lys142Glu
Benign
Multiple submitters
congenital stromal corneal dystrophy
-
DCN p.Lys187Arg
Uncertain significance
Multiple submitters
congenital stromal corneal dystrophy
-
DCN p.Ala289Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Arg345Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Asp78Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Gln295Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Glu146Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Gly356Arg
Conflicting
Single submitter
congenital stromal corneal dystrophy
-
DCN p.Ile162Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Ile233Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Lys150Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Phe170Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Pro315His
Likely benign
Single submitter
congenital stromal corneal dystrophy
-
DCN p.Pro80Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DCN p.Ser189Leu Uncertain significance Single submitter
-
DCN p.Ser240Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Thr210Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Thr213Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCN p.Val129Met
Uncertain significance
Single submitter
Inborn genetic diseases
All DCN variants
Pathogenic 4
- p.Gly316fs No assertion criteria congenital stromal corneal dystrophy
- p.Lys321fs No assertion criteria congenital stromal corneal dystrophy
- p.Pro314fs No assertion criteria congenital stromal corneal dystrophy
- p.Ser323fs No assertion criteria congenital stromal corneal dystrophy
Likely pathogenic 1
- p.Leu265fs Single submitter congenital stromal corneal dystrophy
Conflicting classifications of pathogenicity 3
- p.Gly356Arg Single submitter congenital stromal corneal dystrophy ⚠
- p.Ile207Met Single submitter congenital stromal corneal dystrophy ⚠
- p.Thr224Met Single submitter congenital stromal corneal dystrophy ⚠
Benign 15
- c.212-6T>C Multiple submitters congenital stromal corneal dystrophy
- c.*160C>T Multiple submitters congenital stromal corneal dystrophy
- c.*51A>G Multiple submitters congenital stromal corneal dystrophy
- p.Ala11= Multiple submitters congenital stromal corneal dystrophy
- p.Arg235= Multiple submitters congenital stromal corneal dystrophy
- p.Ile177Phe Multiple submitters congenital stromal corneal dystrophy ⚠
- p.Lys142Glu Multiple submitters congenital stromal corneal dystrophy ⚠
- p.Ser325= Multiple submitters congenital stromal corneal dystrophy
- p.Thr268Met Multiple submitters congenital stromal corneal dystrophy
- p.Thr94= Multiple submitters congenital stromal corneal dystrophy
- p.Val306Ala Multiple submitters congenital stromal corneal dystrophy
- c.324+19del Single submitter
- c.*105G>A Single submitter congenital stromal corneal dystrophy
- c.*377T>C Single submitter congenital stromal corneal dystrophy
- p.Leu355= Single submitter
Benign/Likely benign 1
- p.Pro18= Multiple submitters congenital stromal corneal dystrophy
Likely benign 8
- c.211+9G>T Single submitter
- p.Ala266= Single submitter
- p.Leu107= Single submitter
- p.Pro185= Single submitter congenital stromal corneal dystrophy
- p.Pro315His Single submitter congenital stromal corneal dystrophy ⚠
- p.Ser310Asn Single submitter Inborn genetic diseases
- p.Tyr293= Single submitter congenital stromal corneal dystrophy
- p.Arg350= No assertion criteria DCN-related disorder
Uncertain significance 66
- p.Lys187Arg Multiple submitters congenital stromal corneal dystrophy ⚠
- p.Lys320Arg Multiple submitters Inborn genetic diseases ⚠
- c.-180A>T Single submitter congenital stromal corneal dystrophy
- c.-187A>G Single submitter congenital stromal corneal dystrophy
- c.*148T>G Single submitter congenital stromal corneal dystrophy
- c.*220G>C Single submitter congenital stromal corneal dystrophy
- c.*289A>T Single submitter congenital stromal corneal dystrophy
- c.*341A>G Single submitter congenital stromal corneal dystrophy
- c.*351T>C Single submitter congenital stromal corneal dystrophy
- c.*354A>G Single submitter congenital stromal corneal dystrophy
- c.*443T>G Single submitter congenital stromal corneal dystrophy
- c.*566T>A Single submitter congenital stromal corneal dystrophy
- c.*80C>T Single submitter congenital stromal corneal dystrophy
- p.Ala238Thr Single submitter Inborn genetic diseases ⚠
- p.Ala289Thr Single submitter Inborn genetic diseases ⚠
- p.Arg345Gly Single submitter Inborn genetic diseases ⚠
- p.Arg350Cys Single submitter Inborn genetic diseases ⚠
- p.Arg350His Single submitter Inborn genetic diseases ⚠
- p.Arg44Gly Single submitter Inborn genetic diseases ⚠
- p.Arg57Cys Single submitter Inborn genetic diseases ⚠
- p.Arg63Pro Single submitter Inborn genetic diseases ⚠
- p.Asn171Ser Single submitter Inborn genetic diseases ⚠
- p.Asn211Ser Single submitter congenital stromal corneal dystrophy ⚠
- p.Asn332Ile Single submitter Inborn genetic diseases ⚠
- p.Asp31Asn Single submitter Inborn genetic diseases ⚠
- p.Asp31Gly Single submitter Inborn genetic diseases ⚠
- p.Asp43Asn Single submitter congenital stromal corneal dystrophy ⚠
- p.Asp45Asn Single submitter Inborn genetic diseases ⚠
- p.Asp78Val Single submitter Inborn genetic diseases ⚠
- p.Gln295Arg Single submitter Inborn genetic diseases ⚠
- p.Gln354His Single submitter congenital stromal corneal dystrophy ⚠
- p.Gln66Pro Single submitter Inborn genetic diseases ⚠
- p.Glu146Gly Single submitter Inborn genetic diseases ⚠
- p.Glu338Asp Single submitter Inborn genetic diseases ⚠
- p.Gly198Arg Single submitter Inborn genetic diseases ⚠
- p.Gly286Ser Single submitter ⚠
- p.His108Arg Single submitter Inborn genetic diseases ⚠
- p.His270Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile162Met Single submitter Inborn genetic diseases ⚠
- p.Ile215Val Single submitter Inborn genetic diseases ⚠
- p.Ile233Val Single submitter Inborn genetic diseases ⚠
- p.Leu299Phe Single submitter Inborn genetic diseases ⚠
- p.Leu70= Single submitter congenital stromal corneal dystrophy
- p.Leu79Arg Single submitter ⚠
- p.Leu79Pro Single submitter Inborn genetic diseases ⚠
- p.Lys150Gln Single submitter Inborn genetic diseases ⚠
- p.Lys201Thr Single submitter Inborn genetic diseases ⚠
- p.Phe170Leu Single submitter Inborn genetic diseases ⚠
- p.Pro145Ser Single submitter Inborn genetic diseases ⚠
- p.Pro185Leu Single submitter Inborn genetic diseases ⚠
- p.Pro220Ser Single submitter Inborn genetic diseases ⚠
- p.Pro314Leu Single submitter Inborn genetic diseases ⚠
- p.Pro41Ser Single submitter Inborn genetic diseases ⚠
- p.Pro48Thr Single submitter Inborn genetic diseases ⚠
- p.Pro80Ala Single submitter Inborn genetic diseases ⚠
- p.Ser189Leu Single submitter ⚠
- p.Ser240Thr Single submitter Inborn genetic diseases ⚠
- p.Ser49Tyr Single submitter Inborn genetic diseases ⚠
- p.Thr210Ala Single submitter Inborn genetic diseases ⚠
- p.Thr213Ile Single submitter Inborn genetic diseases ⚠
- p.Thr4Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr293Cys Single submitter Inborn genetic diseases ⚠
- p.Val129Met Single submitter Inborn genetic diseases ⚠
- p.Val260Ile Single submitter Inborn genetic diseases ⚠
- p.Val349Met Single submitter Inborn genetic diseases ⚠
- p.Val40Ala Single submitter Inborn genetic diseases ⚠