ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3325_3326del (p.Tyr1109fs)

dbSNP: rs2125500141
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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 RCV001927726 SCV002171409 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-02-16 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1109Leufs*2) 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).

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