ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3860del (p.Pro1287fs)

dbSNP: rs2125506442
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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 RCV001384351 SCV001583810 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2020-06-19 criteria provided, single submitter clinical testing This variant disrupts the C-terminus of the CRB1 protein. Other variant(s) that disrupt this region (p.Arg1390*) have been determined to be pathogenic (PMID: 23379534, 29068479, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This sequence change results in a premature translational stop signal in the CRB1 gene (p.Pro1287Glnfs*54). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 120 amino acids of the CRB1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CRB1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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