ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.800+1G>A

gnomAD frequency: 0.00001  dbSNP: rs376500610
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989170 SCV001139390 pathogenic Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000995111 SCV001149114 likely pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV001228179 SCV001400565 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-04-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 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). This variant is present in population databases (rs376500610, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with Leber congenital amaurosis (PMID: 30576320, 32865313). This variant is also known as IVS5+1G>A. ClinVar contains an entry for this variant (Variation ID: 803002). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001800907 SCV002044725 pathogenic Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800908 SCV002044736 pathogenic Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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