The NM_005629.4:c.48C>A variant in SLC6A8 is a missense variant predicted to result in substitution of aspartate by glutamate at amino acid 16 (p.Asp16Glu). The variant is absent in gnomAD v2.1.1, although low coverage is noted (PM2_Supporting). The computational predictor REVEL gives a score of 0.123, evidence that does not predict a damaging effect on SLC6A8 function (BP4). To our knowledge, this variant has not been reported in any patients with creatine transporter deficiency in the literature. There is a ClinVar entry for this variant (Variation ID: 392671). In summary, this variant meets the criteria to be classified as a variant of uncertain significance for creatine transporter deficiency. SLC6A8-specific ACMG/AMP criteria applied, as specified by the ClinGen LSD VCEP (specifications version 1.1.0): PM2_Supporting, BP4. (Classification approved by the ClinGen CCDS VCEP on June 6, 2022).