ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3887del (p.Lys1296fs)

dbSNP: rs765536137
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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 RCV001386035 SCV001586121 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-10-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CRB1 protein in which other variant(s) (p.Arg1390*) have been determined to be pathogenic (PMID: 2906847, 23379534). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1073128). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. This variant is present in population databases (rs765536137, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Lys1296Argfs*45) in the CRB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acid(s) of the CRB1 protein.

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