ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)

dbSNP: rs1364945778
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060340 SCV001225021 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-10-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 855145). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gln2150Lysfs*8) 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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268817 SCV001448007 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505627 SCV002807168 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-10-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467807 SCV004214859 likely pathogenic Bardet-Biedl syndrome 14 2023-10-17 criteria provided, single submitter clinical testing

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