ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)

dbSNP: rs281865189
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220513 SCV001392507 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2448Thrfs*8) in the CEP290 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the CEP290 protein. This variant is present in population databases (rs281865189, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with CEP290-related conditions (PMID: 16682973, 16909394, 29588463). This variant is also known as 7341-7342insA. ClinVar contains an entry for this variant (Variation ID: 99864). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002498467 SCV002811003 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-04-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000086302 SCV003831586 uncertain significance not provided 2019-06-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467018 SCV004216568 pathogenic Bardet-Biedl syndrome 14 2023-08-09 criteria provided, single submitter clinical testing
Retina International RCV000086302 SCV000118448 not provided not provided no assertion provided not provided
Natera, Inc. RCV001831898 SCV002091806 pathogenic Leber congenital amaurosis 2020-10-12 no assertion criteria provided clinical testing

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