ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12497_13811+148del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207422 SCV001378772 pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 63 (c.12497_13811+148del) of the USH2A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with USH2A-related conditions. This variant disrupts the p.Thr4337 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17085681, 29588463, 28944237, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.

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