The NM_001482.3:c.*104A>G variant is a single nucleotide substitution in the 3'UTR of GATM. To our knowledge, this variant has not been reported in the literature in an individual with features of AGAT deficiency. Because the variant is located in the 3'UTR, it is not expected to alter the amino acid sequence, and SpliceAI predicts no impact on splicing. The highest population minor allele frequency in gnomAD v4.1.0. is 0.000004811 (2/415744 alleles) in the European non-Finnish population. This is below the ClinGen CCDS VCEP's threshold for PM2_Supporting (<0.000055), meeting this criterion (PM2_Supporting). There is a ClinVar entry for this variant (Variation ID: 316208). In summary, this variant meets the criteria to be classified as uncertain significance for AGAT deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (Specifications Version 2.0.0): PM2_Supporting. (Classification approved by the ClinGen CCDS VCEP on October 7, 2025).