ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4628-2A>G

dbSNP: rs2032462132
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199580 SCV001162751 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001064231 SCV001229118 pathogenic not provided 2023-08-17 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individuals with clinical features of USH2A-related conditions (PMID: 32531858; Invitae). 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: 813112). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 21 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 RCV003446587 SCV004172139 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing

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