ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9371+1G>A

dbSNP: rs41308425
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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 RCV001383267 SCV001582355 pathogenic not provided 2023-07-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: 1070936). Disruption of this splice site has been observed in individuals with Usher syndrome or retinitis pigmentosa (PMID: 22135276, 24938718, 26377068, 27460420). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 47 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).
Baylor Genetics RCV003469690 SCV004208303 pathogenic Retinitis pigmentosa 39 2023-08-29 criteria provided, single submitter clinical testing

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