ClinVar Miner

Submissions for variant NC_000001.10:g.(216462753_216465516)_(216465713_216495224)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844783 SCV002104143 pathogenic Usher syndrome 2022-02-17 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 10 in the USH2A gene. A presumed nomenclature of c.(1644+1_1645-1)_(1840+1_1841-1)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 deletion change in the USH2A gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes (gnomAD, Structural Variants dataset). Deletion of exon 10 has been reported in the literature in individuals affected with Usher Syndrome and inherited retinal degeneration (e.g. Austin-Tse_2018, Zampaglione_2020). 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 pathogenic.

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