ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)

dbSNP: rs564754426
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623037 SCV000741464 pathogenic Inborn genetic diseases 2016-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001040018 SCV001203570 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-06-14 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: 521051). 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.Glu1058*) 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 RCV003451477 SCV004180132 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451476 SCV004180133 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003451477 SCV005058547 pathogenic Leber congenital amaurosis 8 2024-03-13 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678549 SCV000804628 pathogenic Stargardt disease 2016-09-01 no assertion criteria provided clinical testing

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