ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8682-2A>C

dbSNP: rs1553271002
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670330 SCV000795170 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001377278 SCV001574566 likely pathogenic not provided 2020-01-23 criteria provided, single submitter clinical testing 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. Donor and acceptor splice site variants 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 554654). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 43 of the USH2A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Genome-Nilou Lab RCV003446313 SCV004172060 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446312 SCV004172061 likely pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003446313 SCV004206413 likely pathogenic Retinitis pigmentosa 39 2022-06-15 criteria provided, single submitter clinical testing

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