ClinVar

Description

Variant summary: ADGRV1 c.18646delG (p.Ala6216HisfsX13) results in a premature termination codon in the penultimate exon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been reported in affected individuals (HGMD). The variant allele was found at a frequency of 1.3e-05 in 238572 control chromosomes (gnomAD). c.18646delG has been reported in the literature in individuals affected with Usher Syndrome or retinal disease (e.g. Ebermann_2009, Zampaglione_2020). These data indicate that the variant likely associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.