ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.4005+1G>C

dbSNP: rs890453675
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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 RCV001387814 SCV001588533 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2020-01-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with CRB1-related conditions (PMID: 15024725, 23379534, 20683928). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in the last intron (intron 11) of the CRB1 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.

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