ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3533-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003790886 SCV004582589 likely pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-11-20 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with clinical features of RPGRIP1-related conditions (Invitae). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change affects an acceptor splice site in intron 21 of the RPGRIP1 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 RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016).

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