ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) (rs587783017)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457302 SCV000541578 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2019-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2290Lysfs*6) in the CEP290 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 insufficient coverage at this position in the ExAC database. This variant has been observed in an individual affected with Leber congenital amaurosis (PMID: 25445212). This variant is also known as c.6869_6870insA in the literature. ClinVar contains an entry for this variant (Variation ID: 156386). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115, 25377065, 28559085). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075551 SCV001241177 pathogenic Retinal dystrophy 2018-12-20 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000144468 SCV000189603 pathogenic Leber congenital amaurosis 10 2014-09-18 no assertion criteria provided clinical testing

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