ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)

dbSNP: rs1664292210
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228468 SCV001400868 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2020-09-25 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 not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln461*) in the CRB1 gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity RCV001780159 SCV002019729 likely pathogenic not provided 2023-02-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449718 SCV004179911 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449717 SCV004179912 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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