TACSTD2 — 120 ClinVar variants
All ClinVar germline TACSTD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
10 Pathogenic · 1 Likely pathogenic · 4 Conflicting · 16 Benign · 1 Benign/Likely benign · 9 Likely benign · 79 Uncertain significance
Full TACSTD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TACSTD2 p.Ala86Gly
Conflicting
Single submitter
gelatinous drop-like corneal dystrophy
-
TACSTD2 p.Arg300Gln
Conflicting
Single submitter
gelatinous drop-like corneal dystrophy
- TACSTD2 p.Asp146Glu Conflicting Single submitter
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.
- TACSTD2 p.Arg135Leu Uncertain significance Multiple submitters
-
TACSTD2 p.Gly276Asp
Uncertain significance
Multiple submitters
gelatinous drop-like corneal dystrophy
- TACSTD2 p.Ala193Ser Uncertain significance Single submitter
- TACSTD2 p.Ala287Thr Uncertain significance Single submitter
- TACSTD2 p.Ala82Thr Uncertain significance Single submitter
- TACSTD2 p.Ala82Val Uncertain significance Single submitter
- TACSTD2 p.Arg135Cys Uncertain significance Single submitter
- TACSTD2 p.Arg13Gln Uncertain significance Single submitter
- TACSTD2 p.Arg181His Uncertain significance Single submitter
- TACSTD2 p.Arg272Gly Uncertain significance Single submitter
-
TACSTD2 p.Arg3Pro
Uncertain significance
Single submitter
gelatinous drop-like corneal dystrophy
- TACSTD2 p.Asn33Ser Uncertain significance Single submitter
- TACSTD2 p.Asp171Val Uncertain significance Single submitter
- TACSTD2 p.Asp218Gly Uncertain significance Single submitter
- TACSTD2 p.Asp218His Uncertain significance Single submitter
- TACSTD2 p.Asp32Asn Uncertain significance Single submitter
- TACSTD2 p.Asp47Asn Uncertain significance Single submitter
- TACSTD2 p.Glu197Lys Uncertain significance Single submitter
- TACSTD2 p.Gly241Ser Uncertain significance Single submitter
- TACSTD2 p.Gly291Arg Uncertain significance Single submitter
- TACSTD2 p.Gly50Ser Uncertain significance Single submitter
- TACSTD2 p.Gly6Arg Uncertain significance Single submitter
- TACSTD2 p.His153Arg Uncertain significance Single submitter
- TACSTD2 p.His169Asn Uncertain significance Single submitter
- TACSTD2 p.Ile156Thr Uncertain significance Single submitter
- TACSTD2 p.Leu148Val Uncertain significance Single submitter
- TACSTD2 p.Lys115Arg Uncertain significance Single submitter
- TACSTD2 p.Lys271Arg Uncertain significance Single submitter
- TACSTD2 p.Pro37Ala Uncertain significance Single submitter
- TACSTD2 p.Ser142Asn Uncertain significance Single submitter
- TACSTD2 p.Ser71Pro Uncertain significance Single submitter
- TACSTD2 p.Thr209Lys Uncertain significance Single submitter
- TACSTD2 p.Thr25Ser Uncertain significance Single submitter
- TACSTD2 p.Thr88Lys Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
-
TACSTD2 p.Gly59Ser
Uncertain significance
Multiple submitters
gelatinous drop-like corneal dystrophy
- TACSTD2 p.Ala116Thr Uncertain significance Single submitter
- TACSTD2 p.Ala78Glu Uncertain significance Single submitter
- TACSTD2 p.Arg113Cys Uncertain significance Single submitter
- TACSTD2 p.Arg144Cys Uncertain significance Single submitter
- TACSTD2 p.Arg183Pro Uncertain significance Single submitter
- TACSTD2 p.Arg245Cys Uncertain significance Single submitter
- TACSTD2 p.Arg245Gly Uncertain significance Single submitter
- TACSTD2 p.Asp99Asn Uncertain significance Single submitter
- TACSTD2 p.Cys44Tyr Uncertain significance Single submitter
- TACSTD2 p.Ile258Thr Uncertain significance Single submitter
- TACSTD2 p.Lys138Glu Uncertain significance Single submitter
- TACSTD2 p.Lys40Asn Uncertain significance Single submitter
- TACSTD2 p.Met270Ile Uncertain significance Single submitter
- TACSTD2 p.Met270Thr Uncertain significance Single submitter
- TACSTD2 p.Phe190Leu Uncertain significance Single submitter
- TACSTD2 p.Ser269Phe Uncertain significance Single submitter
All TACSTD2 variants
Pathogenic 10
- p.Asp218fs Single submitter gelatinous drop-like corneal dystrophy
- p.Tyr196Ter Single submitter gelatinous drop-like corneal dystrophy
- p.Cys119Ser No assertion criteria gelatinous drop-like corneal dystrophy
- p.Gln118Ter No assertion criteria gelatinous drop-like corneal dystrophy
- p.Gln207Ter No assertion criteria gelatinous drop-like corneal dystrophy
- p.Gln211fs No assertion criteria gelatinous drop-like corneal dystrophy
- p.Leu186Pro No assertion criteria gelatinous drop-like corneal dystrophy
- p.Leu257_Ile258insTer No assertion criteria gelatinous drop-like corneal dystrophy
- p.Met1Arg No assertion criteria gelatinous drop-like corneal dystrophy
- p.Ser170Ter No assertion criteria gelatinous drop-like corneal dystrophy
Likely pathogenic 1
- p.Glu227Lys No assertion criteria gelatinous drop-like corneal dystrophy
Conflicting classifications of pathogenicity 4
- p.Ala86Gly Single submitter gelatinous drop-like corneal dystrophy ⚠
- p.Arg245= Single submitter gelatinous drop-like corneal dystrophy
- p.Arg300Gln Single submitter gelatinous drop-like corneal dystrophy ⚠
- p.Asp146Glu Single submitter ⚠
Benign 16
- c.-169G>A Multiple submitters gelatinous drop-like corneal dystrophy
- c.-54A>C Multiple submitters gelatinous drop-like corneal dystrophy
- c.*202A>G Multiple submitters gelatinous drop-like corneal dystrophy
- c.*280T>C Multiple submitters gelatinous drop-like corneal dystrophy
- c.*421A>G Multiple submitters gelatinous drop-like corneal dystrophy
- c.*48G>A Multiple submitters gelatinous drop-like corneal dystrophy
- c.*637G>A Multiple submitters gelatinous drop-like corneal dystrophy
- p.Asp173Ala Multiple submitters gelatinous drop-like corneal dystrophy
- p.Asp216Glu Multiple submitters gelatinous drop-like corneal dystrophy
- p.Glu147Asp Multiple submitters gelatinous drop-like corneal dystrophy
- p.Gly276= Multiple submitters gelatinous drop-like corneal dystrophy
- p.Ile297Val Multiple submitters gelatinous drop-like corneal dystrophy
- c.-1C>A Single submitter gelatinous drop-like corneal dystrophy
- c.*166C>T Single submitter gelatinous drop-like corneal dystrophy
- c.*226C>A Single submitter gelatinous drop-like corneal dystrophy
- c.*565G>T Single submitter gelatinous drop-like corneal dystrophy
Benign/Likely benign 1
- p.Glu254= Multiple submitters gelatinous drop-like corneal dystrophy
Likely benign 9
- c.*396T>C Multiple submitters gelatinous drop-like corneal dystrophy
- c.*751C>A Multiple submitters gelatinous drop-like corneal dystrophy
- c.*98C>T Multiple submitters gelatinous drop-like corneal dystrophy
- c.-314G>A Single submitter gelatinous drop-like corneal dystrophy
- p.Pro265= Single submitter
- p.Ser123= Single submitter
- p.Val20Leu Single submitter
- p.Ala23= No assertion criteria TACSTD2-related disorder
- p.Pro106= No assertion criteria TACSTD2-related disorder
Uncertain significance 79
- c.-56C>G Multiple submitters gelatinous drop-like corneal dystrophy
- p.Arg135Leu Multiple submitters ⚠
- p.Gly276Asp Multiple submitters gelatinous drop-like corneal dystrophy ⚠
- p.Gly59Ser Multiple submitters gelatinous drop-like corneal dystrophy ⚠
- c.-104C>G Single submitter gelatinous drop-like corneal dystrophy
- c.-112G>A Single submitter gelatinous drop-like corneal dystrophy
- c.-160C>G Single submitter gelatinous drop-like corneal dystrophy
- c.-199G>A Single submitter gelatinous drop-like corneal dystrophy
- c.-241C>G Single submitter gelatinous drop-like corneal dystrophy
- c.-269G>C Single submitter gelatinous drop-like corneal dystrophy
- c.-56C>T Single submitter gelatinous drop-like corneal dystrophy
- c.*236C>G Single submitter gelatinous drop-like corneal dystrophy
- c.*281A>C Single submitter gelatinous drop-like corneal dystrophy
- c.*298A>C Single submitter gelatinous drop-like corneal dystrophy
- c.*59A>C Single submitter gelatinous drop-like corneal dystrophy
- c.*645T>C Single submitter gelatinous drop-like corneal dystrophy
- c.*656T>A Single submitter gelatinous drop-like corneal dystrophy
- c.*6C>T Single submitter gelatinous drop-like corneal dystrophy
- c.*94G>A Single submitter gelatinous drop-like corneal dystrophy
- p.Ala116Thr Single submitter ⚠
- p.Ala193Ser Single submitter ⚠
- p.Ala287Thr Single submitter ⚠
- p.Ala78Glu Single submitter ⚠
- p.Ala78Val Single submitter
- p.Ala82Thr Single submitter ⚠
- p.Ala82Val Single submitter ⚠
- p.Ala96Val Single submitter
- p.Arg113Cys Single submitter ⚠
- p.Arg135Cys Single submitter ⚠
- p.Arg13Gln Single submitter ⚠
- p.Arg144Cys Single submitter ⚠
- p.Arg181His Single submitter ⚠
- p.Arg183Pro Single submitter ⚠
- p.Arg228= Single submitter
- p.Arg245Cys Single submitter ⚠
- p.Arg245Gly Single submitter ⚠
- p.Arg272Gly Single submitter ⚠
- p.Arg3Pro Single submitter gelatinous drop-like corneal dystrophy ⚠
- p.Asn33Ser Single submitter ⚠
- p.Asp171Val Single submitter ⚠
- p.Asp218Gly Single submitter ⚠
- p.Asp218His Single submitter ⚠
- p.Asp32Asn Single submitter ⚠
- p.Asp47_Pro49del Single submitter gelatinous drop-like corneal dystrophy
- p.Asp47Asn Single submitter ⚠
- p.Asp99Asn Single submitter ⚠
- p.Cys44Tyr Single submitter ⚠
- p.Glu197Lys Single submitter ⚠
- p.Glu313Gln Single submitter
- p.Gly139Asp Single submitter
- p.Gly240= Single submitter gelatinous drop-like corneal dystrophy
- p.Gly241Ser Single submitter ⚠
- p.Gly291Arg Single submitter ⚠
- p.Gly315Arg Single submitter
- p.Gly50Ser Single submitter ⚠
- p.Gly6Arg Single submitter ⚠
- p.His152= Single submitter
- p.His153Arg Single submitter ⚠
- p.His169Asn Single submitter ⚠
- p.Ile156Thr Single submitter ⚠
- p.Ile203Met Single submitter
- p.Ile219Leu Single submitter
- p.Ile258Thr Single submitter ⚠
- p.Leu148Val Single submitter ⚠
- p.Lys115Arg Single submitter ⚠
- p.Lys138Glu Single submitter ⚠
- p.Lys271Arg Single submitter ⚠
- p.Lys40Asn Single submitter ⚠
- p.Met270Ile Single submitter ⚠
- p.Met270Thr Single submitter ⚠
- p.Phe190Leu Single submitter ⚠
- p.Pro37Ala Single submitter ⚠
- p.Ser142Asn Single submitter ⚠
- p.Ser269Phe Single submitter ⚠
- p.Ser71Pro Single submitter ⚠
- p.Thr209Lys Single submitter ⚠
- p.Thr25Ser Single submitter ⚠
- p.Thr88Lys Single submitter ⚠
- p.Val194Leu Single submitter