This variant is present at a low frequency in the Gnomad database27 (allele frequency of 8.2 × 10−5) and has been reported as pathogenic in Clinvar (rs387906562) for oculocutaneous albinism type 3 (OCA3), an autosomal recessive disorder of melanin biosynthesis that reduces pigmentation of the hair, skin and eyes28. This evidence concerns the gene TYRP1 and oculocutaneous albinism type 3.