ClinVar Miner

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

dbSNP: rs2034938852
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Total submissions: 5
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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 disorder 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001231261 SCV001403776 pathogenic not provided 2023-10-15 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. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 873464). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003455444 SCV004182313 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455443 SCV004182314 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003455444 SCV004206416 pathogenic Retinitis pigmentosa 39 2022-05-28 criteria provided, single submitter clinical testing

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