ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer)

dbSNP: rs2125303672
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001682644 SCV001905530 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538607 SCV003209596 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-05-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1275767). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys45*) 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).
Genome-Nilou Lab RCV003451843 SCV004178800 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451842 SCV004178801 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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