ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14968+2T>G

dbSNP: rs1656640356
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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 RCV001063419 SCV001228262 likely pathogenic not provided 2019-12-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with USH2A-related conditions. 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 is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 68 of the USH2A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV005021405 SCV005642749 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-01-11 criteria provided, single submitter clinical testing

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