ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter) (rs776645403)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763317 SCV000893994 pathogenic Leber congenital amaurosis 10; Meckel syndrome type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000636983 SCV000758431 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg360*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs776645403, ExAC 0.02%). This variant has been reported along with a second, pathogenic CEP290 variant in individuals affected with autosomal recessive Leber congenital amaurosis and autosomal recessive retinitis pigmentosa (PMID: 22355252, 25097241). 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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