ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14007T>A (p.Tyr4669Ter)

dbSNP: rs1657800056
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228589 SCV001400994 pathogenic not provided 2019-09-11 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 not been reported in the literature in individuals with USH2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr4669*) in the USH2A gene. It is expected to result in an absent or disrupted protein product.

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