ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2587G>T (p.Glu863Ter)

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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 RCV003807353 SCV004608685 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu863*) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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