ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)

dbSNP: rs781310385
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045374 SCV001209220 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile2385*) 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). 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 variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 842877). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002497383 SCV002801994 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-12-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467739 SCV004216507 likely pathogenic Bardet-Biedl syndrome 14 2023-10-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536082 SCV004738915 likely pathogenic CEP290-related disorder 2024-02-02 criteria provided, single submitter clinical testing The CEP290 c.7153delA variant is predicted to result in premature protein termination (p.Ile2385*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0024% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in CEP290 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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