This variant has not been previously reported in the Human Gene Mutation Database (HGMD) (14), the ClinVar database maintained by the National Center for Biotechnology Information (15), the Human Tafazzin Gene Variants Database curated by the Barth Syndrome Foundation (16) (accessed on 14th April 2025) and also in GnomAD v.4.1.0 database (17). The gene discussed is TAFAZZIN; the disease is Barth syndrome.