ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12172_12174delinsTAAA (p.Leu4058Ter)

dbSNP: rs2464914936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464831 SCV004206345 pathogenic Retinitis pigmentosa 39 2023-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003565687 SCV004309999 pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Leu4058*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This premature translational stop signal has been observed in individual(s) with clinical features of Usher syndrome (PMID: 24944099, 29099798). For these reasons, this variant has been classified as Pathogenic.

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