ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7121-1G>T

dbSNP: rs2102499826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001990744 SCV002255449 likely pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 37 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: 10729113, 10909849, 20507924, 25649381). In summary, the currently available evidence indicates that the variant is 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. ClinVar contains an entry for this variant (Variation ID: 1467323). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV003464335 SCV004206363 likely pathogenic Retinitis pigmentosa 39 2022-12-29 criteria provided, single submitter clinical testing

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