ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7451+1G>A

dbSNP: rs541848371
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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 RCV001233874 SCV001406488 likely pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 39 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 (rs541848371, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 960362). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Baylor Genetics RCV003462795 SCV004208193 likely pathogenic Retinitis pigmentosa 39 2023-10-10 criteria provided, single submitter clinical testing

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