The sequence variant c.2865G>C (dbSNP rs148108322) in exon 23 does not cause any amino acid substitution (silent) and is not predicted to interfere with the RNA-splicing process. Its allele frequency is not known, as it was only detected in one patient, and not among 200 control alleles. It is considered a rare, benign variant in linkage disequilibrium with a more severe variant.