The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA392254708 598112
VCEP: Cerebral Creatine Deficiency Syndromes VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001482.3(GATM):c.1237C>T (p.Arg413Trp) | Likely Pathogenic | AGAT deficiency | 2024-09-20 | 1.1 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 1 | GATM |
| View | NM_001482.3(GATM):c.1237C>T (p.Arg413Trp) | Likely Pathogenic | AGAT deficiency | 2022-10-07 | 1.0 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 1 | GATM |
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