ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5573-834A>G

gnomAD frequency: 0.00001  dbSNP: rs1558244152
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075747 SCV001241377 likely pathogenic Retinal dystrophy 2019-05-29 criteria provided, single submitter clinical testing
Invitae RCV001862631 SCV002229973 pathogenic not provided 2024-01-07 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the USH2A gene. It does not directly change the encoded amino acid sequence of the USH2A protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with USH2A-related conditions (PMID: 26629787; Invitae). ClinVar contains an entry for this variant (Variation ID: 867167). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 26629787). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003127624 SCV003802706 likely pathogenic Retinitis pigmentosa 39 2023-02-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127624 SCV004172120 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing

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