ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.613_619del (p.Ile205fs) (rs62645752)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986484 SCV001135496 pathogenic Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001047855 SCV001211837 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2020-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile205Aspfs*13) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 11231775, 29178642). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99913). Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073493 SCV001239036 pathogenic Retinal dystrophy 2019-04-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000086359 SCV001248707 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Retina International RCV000086359 SCV000118504 not provided not provided no assertion provided not provided
Retina International RCV000086359 SCV000118505 not provided not provided no assertion provided not provided
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787583 SCV000926563 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787584 SCV000926564 likely pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001250626 SCV001425497 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research
Natera, Inc. RCV000787584 SCV001460934 pathogenic Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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