ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3224_3225dup (p.Pro1076fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793800 SCV000933174 pathogenic not provided 2018-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1076Valfs*37) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with USH2A-related disease. 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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