ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11189del (p.Glu3730fs)

dbSNP: rs1660922779
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075429 SCV001241052 likely pathogenic Retinal dystrophy 2018-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001388448 SCV001589446 pathogenic not provided 2024-02-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu3730Glyfs*20) 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: 866986). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003455413 SCV004182131 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003455413 SCV004200732 likely pathogenic Retinitis pigmentosa 39 2023-04-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021432 SCV005638435 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-04-26 criteria provided, single submitter clinical testing

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