ClinVar Miner

Submissions for variant NC_000001.10:g.(?_216011333)_(216040512_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449694 SCV001652946 likely pathogenic Usher syndrome 2020-06-19 criteria provided, single submitter clinical testing The deletion of exons 43-47 in USH2A has not been previously reported in individuals with Usher syndrome and has not been observed in population studies such as the Database of Genomic Variants or ExAC. Please note that exact breakpoints could not be determined due to limitations of the testing methodology. This deletion is in-frame and removes 4% (689 of 15609 nucleotides) of the coding sequence. Several smaller deletions impacting exons encompassed by this deletion have been reported in individuals with Usher syndrome and/or hearing loss. In summary, while additional evidence is needed to confirm its impact, the variant is likely pathogenic. ACMG/AMP criteria applied: PVS1_Strong, PM2.

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