For example, in our cohort the SCN9A(ENST00000409672.1): c.2215A>G, p.Ile739Valvariant was found in four participants with painful neuropathy and described previously as pathogenic.36 However, p.Ile739Valis common in the general population (0.2% allele frequency), while the prevalence of small fibre neuropathy is rare (∼50 per 100 00044). The gene discussed is SCN9A; the disease is peripheral neuropathy.