ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1972-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Suzhou Beikang Medical Laboratory RCV004776482 SCV005387792 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-10-31 no assertion criteria provided clinical testing In summary, the currently available evidence indicates that the variant is Likely pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 11 of the USH2A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in USH2A are known to be pathogenic (PMID: 21841779, 26827111).

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