ACY1 — 15 ClinVar variants
All ClinVar germline ACY1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
1 Likely pathogenic · 1 Benign/Likely benign · 4 Likely benign · 9 Uncertain significance
Full ACY1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 3
The independent predictors disagree with each other — read with care.
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ACY1 p.Arg378Gln
Uncertain significance
Multiple submitters
aminoacylase 1 deficiency
-
ACY1 p.Ala326Gly
Uncertain significance
Single submitter
aminoacylase 1 deficiency
- ACY1 p.Ser406Ile Uncertain significance Single submitter
All ACY1 variants
Likely pathogenic 1
- p.Thr254fs Single submitter aminoacylase 1 deficiency
Benign/Likely benign 1
- p.Arg393His Multiple submitters aminoacylase 1 deficiency
Likely benign 4
- c.1002-13C>G Single submitter
- c.708-7A>T Single submitter
- p.Gly259= Single submitter
- p.Ser12= Single submitter
Uncertain significance 9
- p.Arg109Gly Multiple submitters aminoacylase 1 deficiency ⚠
- p.Arg378Gln Multiple submitters aminoacylase 1 deficiency ⚠
- p.Ala326Gly Single submitter aminoacylase 1 deficiency ⚠
- p.Arg350His Single submitter ⚠
- p.Cys331Arg Single submitter ⚠
- p.Ile342fs Single submitter
- p.Phe158= Single submitter
- p.Pro266Thr Single submitter Inborn genetic diseases ⚠
- p.Ser406Ile Single submitter ⚠