ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.6798G>A (p.Trp2266Ter) (rs760540562)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596012 SCV000702706 pathogenic not provided 2016-11-18 criteria provided, single submitter clinical testing
Invitae RCV000636987 SCV000758435 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2266*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs760540562, ExAC 0.2%). This variant has not been reported in the literature in individuals with CEP290-related disease. 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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