BBS10 and Bardet-Biedl syndrome: One individual was confirmed to be compound heterozygous for this variant and for c.1220T > G in BBS10; this latter variant, involving the exchange of isoleucine at position 407 with serine, has not been described before as a cause of BBS but has a low carrier frequency in gnomAD (1/21646 Finnish alleles) [48].