My partner and I both have II genotypes (homozygous insertion) at rs797044837 in the DVL1 gene, based on AncestryDNA raw data. This variant is listed in ClinVar as a pathogenic frameshift mutation associated with Autosomal Dominant Robinow Syndrome Type 2.
Neither of us has any symptoms or features associated with the condition, but since we both have two copies, our child will inherit it 100%.
We’ve scheduled genetic counseling but would appreciate insight from this community: • How reliable is the rs797044837 association with Robinow in real-world cases? • Is there known incomplete penetrance or mild expression? • Anyone else encountered this variant or seen updated research?