ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3749-2A>G

gnomAD frequency: 0.00004  dbSNP: rs376517859
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176499 SCV000228165 pathogenic not provided 2015-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001226493 SCV001398808 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-09-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 23 of the RPGRIP1 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs376517859, gnomAD 0.01%). Disruption of this splice site has been observed in individual(s) with Leber congenital amaurosis (PMID: 23847139). ClinVar contains an entry for this variant (Variation ID: 195835). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001800514 SCV002044659 likely pathogenic Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800515 SCV002044670 likely pathogenic Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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