ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.311-1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466259 SCV004209310 likely pathogenic X-linked cone-rod dystrophy 1 2023-11-09 criteria provided, single submitter clinical testing
Invitae RCV003649461 SCV004511333 likely pathogenic Primary ciliary dyskinesia 2023-12-30 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 of the RPGR 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 RPGR are known to be pathogenic (PMID: 16055928, 16969763). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPGR-related conditions. 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.

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