ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5857+1G>C

dbSNP: rs2031604509
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074953 SCV001240560 likely pathogenic Retinal dystrophy 2017-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862587 SCV002229971 pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing This variant is also known as IVS29+1G>C. 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: 866716). Disruption of this splice site has been observed in individuals with Usher syndrome and inherited retinal dystrophy (PMID: 18641288; Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 29 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 RCV003446612 SCV004172114 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003446612 SCV004208222 pathogenic Retinitis pigmentosa 39 2023-10-02 criteria provided, single submitter clinical testing

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