ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)

dbSNP: rs773642187
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001229340 SCV001401782 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-05-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CEP290 protein in which other variant(s) (p.Thr2457Alafs*27) have been determined to be pathogenic (PMID: 20683928). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 956518). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. This variant is present in population databases (rs773642187, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Tyr2429*) in the CEP290 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 51 amino acid(s) of the CEP290 protein.
Genome-Nilou Lab RCV001580574 SCV001810327 likely pathogenic Joubert syndrome 5 2021-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504305 SCV002810455 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-08-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469403 SCV004214861 likely pathogenic Bardet-Biedl syndrome 14 2024-03-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545135 SCV004771329 likely pathogenic CEP290-related disorder 2024-02-07 no assertion criteria provided clinical testing The CEP290 c.7283_7286dupAGTA variant is predicted to result in premature protein termination (p.Tyr2429*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of African descent in gnomAD. Nonsense variants in CEP290 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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