ClinVar Miner

Submissions for variant NC_000001.10:g.(?_197407677)_(197411422_?)del

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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 RCV001390232 SCV001591898 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2020-05-22 criteria provided, single submitter clinical testing This variant is a sub-genic deletion of the genomic region encompassing exons 10-11 of the CRB1 gene. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product. This variant has not been reported in the literature in individuals with CRB1-related conditions. This variant disrupts the C-terminus of the CRB1 protein. Another variant that disrupts this region (p.Arg1390*) have been determined to be pathogenic (PMID: 23379534, 29068479, 24715753). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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