ClinVar

Description

Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 14 in the AHI1 gene. A presumed nomenclature of c.(1912+1_1913-1)_(2036+1_2037-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a frameshift in the AHI1 gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes. c.(1912+1_1913-1)_(2036+1_2037-1)del has been reported in the literature in at least one individual affected with retinal disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.