ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.6862del (p.Asn2290Ilefs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810929 SCV000951170 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2290Ilefs*11) 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 poor data quality at this position in the ExAC database. This variant has been observed in combination with other CEP290 variants in individuals affected with Joubert syndrome or nephronopthisis (PMID: 17409309) and in heterozygosity in an individual with Leber congenital amaurosis (PMID: 29053603). CEP290 is also known as NPHP6 in the literature. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). For these reasons, this variant has been classified as Pathogenic.

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