Using whole exome sequencing in 376 CJD cases we found only one non-synonymous heterozygous variant in the PLCXD3 gene in a patient with sCJD (exon2:c.C673G:p.L225V), however this variant was also present in the 1000 Genomes control population with a minor allele frequency of 0.0005. The gene discussed is PLCXD3; the disease is Creutzfeldt Jacob disease.