ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11548+2T>G

dbSNP: rs1371160062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075750 SCV001241380 pathogenic Retinal dystrophy 2019-06-03 criteria provided, single submitter clinical testing
Invitae RCV002555917 SCV003523482 pathogenic not provided 2022-06-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 867169). Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 22004887). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 59 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).
Genome-Nilou Lab RCV003446615 SCV004173932 pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing

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