ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)

dbSNP: rs2033254449
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052782 SCV001217008 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-07-26 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.Leu2448Thrfs*8) have been determined to be pathogenic (PMID: 16682973, 16909394, 29588463). 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: 848929). 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.Glu2412Argfs*6) in the CEP290 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 68 amino acid(s) of the CEP290 protein.
Fulgent Genetics, Fulgent Genetics RCV002497410 SCV002809002 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-10-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467770 SCV004216761 likely pathogenic Bardet-Biedl syndrome 14 2024-03-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733128 SCV005363276 likely pathogenic CEP290-related disorder 2024-03-21 no assertion criteria provided clinical testing The CEP290 c.7233dupA variant is predicted to result in a frameshift and premature protein termination (p.Glu2412Argfs*6). This variant is present in the last exon of CEP290 and is not predicted to undergo nonsense mediated decay. To our knowledge, this variant has not been reported in the literature. However, truncating variants downstream of this variant have been determined to be pathogenic (see for example - p.Leu2448Thrfs*8 - Feldhaus et al. 2020. PubMed ID: 31734136; Sayer et al. 2006. PubMed ID: 16682973). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as likely pathogenic.

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