ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001095691 SCV001251497 likely pathogenic USH2A-Related Disorders criteria provided, single submitter research The USH2A c.3686T>G (p.L1229*) variant is an apparently novel nonsense variant predicted to result in premature protein truncation and/or nonsense-mediated decay. While this particular variant has not been seen previously in affected individuals, other truncating variants are known to be disease-causing with regards to Usher syndrome type 2.
Invitae RCV001231261 SCV001403776 pathogenic not provided 2019-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1229*) 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 conditions. 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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