ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.584del (p.Leu195fs)

dbSNP: rs1277316340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001936039 SCV002188186 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-06-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CEP290-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu195Tyrfs*31) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115).
Fulgent Genetics, Fulgent Genetics RCV002503602 SCV002813952 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-04-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV003471052 SCV004216675 likely pathogenic Bardet-Biedl syndrome 14 2023-03-25 criteria provided, single submitter clinical testing

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