ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6050-2A>G

dbSNP: rs772124060
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670084 SCV000794900 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-10-19 criteria provided, single submitter clinical testing
Invitae RCV001377849 SCV001575287 pathogenic not provided 2023-07-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 30 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). This variant is present in population databases (rs772124060, gnomAD 0.0009%). Disruption of this splice site has been observed in individuals with retinitis pigmentosa (PMID: 28041643; Invitae). ClinVar contains an entry for this variant (Variation ID: 554449). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003446311 SCV004172107 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001829862 SCV004172108 likely pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003446311 SCV005055723 likely pathogenic Retinitis pigmentosa 39 2024-02-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829862 SCV002090903 likely pathogenic Usher syndrome type 2A 2020-08-31 no assertion criteria provided clinical testing

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