ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.848+1G>A

dbSNP: rs2125328634
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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 RCV001900241 SCV002138305 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-06-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1373006). Disruption of this splice site has been observed in individuals with inherited retinal dystrophy (PMID: 28157192; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 3 of the CRB1 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 CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521).
Baylor Genetics RCV003475135 SCV004211244 pathogenic Leber congenital amaurosis 8 2024-02-08 criteria provided, single submitter clinical testing

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