rs1064796859

Description

The c.-19+1 G>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Several in-silico splice prediction models predict that c.-19+1 G>C destroys the canonical splice donor site of exon 1; however, exon 1 is non-coding. In the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.