CSTA — 28 ClinVar variants
All ClinVar germline CSTA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
4 Pathogenic · 3 Likely pathogenic · 6 Benign · 2 Likely benign · 13 Uncertain significance
Full CSTA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CSTA p.Arg58Gln
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 14
The independent predictors disagree with each other — read with care.
- CSTA p.Lys91Asn Benign Multiple submitters
- CSTA p.Thr96Met Benign Multiple submitters
-
CSTA p.Ala12Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSTA p.Arg58Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSTA p.Asp92Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSTA p.Gln17Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSTA p.Gln42Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSTA p.Glu94Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CSTA p.Gly84Arg Uncertain significance Single submitter
-
CSTA p.Lys30Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSTA p.Lys63Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSTA p.Met65Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSTA p.Pro11His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSTA p.Ser7Phe
Uncertain significance
Single submitter
Inborn genetic diseases
All CSTA variants
Pathogenic 4
- p.Lys22Ter Multiple submitters peeling skin syndrome 4
- c.67-2A>T Single submitter peeling skin syndrome 4
- p.Gln86Ter No assertion criteria peeling skin syndrome 4
- p.Tyr64Ter No assertion criteria CSTA-related disorder
Likely pathogenic 3
- p.Arg58Ter Multiple submitters peeling skin syndrome 4
- p.Tyr35fs Single submitter
- p.Tyr35Ter Single submitter peeling skin syndrome 4
Benign 6
- c.169-12A>C Multiple submitters
- p.Lys91Asn Multiple submitters ⚠
- p.Thr96Met Multiple submitters ⚠
- p.Tyr35= Multiple submitters
- c.169-209G>A Single submitter
- c.169-337C>T Single submitter
Likely benign 2
- p.Asp21Asn Single submitter Inborn genetic diseases
- c.*10C>T No assertion criteria CSTA-related disorder
Uncertain significance 13
- p.Ala12Thr Single submitter Inborn genetic diseases ⚠
- p.Arg58Gln Single submitter Inborn genetic diseases ⚠
- p.Arg58Pro Single submitter Inborn genetic diseases ⚠
- p.Asp92Val Single submitter Inborn genetic diseases ⚠
- p.Gln17Arg Single submitter Inborn genetic diseases ⚠
- p.Gln42Arg Single submitter Inborn genetic diseases ⚠
- p.Glu94Lys Single submitter Inborn genetic diseases ⚠
- p.Gly84Arg Single submitter ⚠
- p.Lys30Asn Single submitter Inborn genetic diseases ⚠
- p.Lys63Thr Single submitter Inborn genetic diseases ⚠
- p.Met65Thr Single submitter Inborn genetic diseases ⚠
- p.Pro11His Single submitter Inborn genetic diseases ⚠
- p.Ser7Phe Single submitter Inborn genetic diseases ⚠