ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.785-1G>A

dbSNP: rs2037762589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001971415 SCV002258066 likely pathogenic not provided 2021-09-05 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 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 (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (Invitae). 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.

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