ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7595-1G>T

dbSNP: rs1553273421
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669247 SCV000793981 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-09-06 criteria provided, single submitter clinical testing
Invitae RCV002532085 SCV002998437 likely pathogenic not provided 2023-10-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 40 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). 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: 553734). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Genome-Nilou Lab RCV003446308 SCV004172071 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446307 SCV004172072 likely pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003446308 SCV004206365 likely pathogenic Retinitis pigmentosa 39 2022-12-27 criteria provided, single submitter clinical testing

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