ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.5434_5435delGA (p.Glu1812Lysfs) (rs757609119)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636996 SCV000758444 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1812Lysfs*5) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs757609119, ExAC 0.04%). This variant has been reported as in combination with a pathogenic CEP290 variant in an individual affected with Leber congenital amaurosis and nephfronophthisis (PMID: 17564967). This variant is also known as 5431_5433delGA 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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