ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)

dbSNP: rs751935649
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388311 SCV001589244 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2020-07-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). This variant has not been reported in the literature in individuals with CRB1-related conditions. This variant is present in population databases (rs751935649, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Ser586Leufs*7) in the CRB1 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV002504649 SCV002813840 likely pathogenic Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-12-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450082 SCV004179960 likely pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450083 SCV004179961 likely pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450081 SCV004179962 likely pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003450082 SCV004211108 likely pathogenic Leber congenital amaurosis 8 2023-10-23 criteria provided, single submitter clinical testing

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