ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3749+2_3749+3del

dbSNP: rs1665120314
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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 RCV002002933 SCV002268618 likely pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-08-31 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 9 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). 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. Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (PMID: 23379534). This variant is not present in population databases (ExAC no frequency).

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