ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7231C>T (p.Gln2411Ter)

dbSNP: rs755693369
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058514 SCV001223093 pathogenic not provided 2019-12-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant has been observed in individual(s) with Usher syndrome (PMID: 29625443). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln2411*) in the USH2A gene. It is expected to result in an absent or disrupted protein product.

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