ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7341del (p.Lys2447fs)

dbSNP: rs281865189
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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 RCV001390390 SCV001592109 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys2447Asnfs*10) in the CEP290 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acid(s) of the CEP290 protein. This variant is present in population databases (rs745589877, gnomAD 0.005%). 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: 1076473). 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. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002488212 SCV002786935 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-04-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003136065 SCV003826169 likely pathogenic not provided 2021-11-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469771 SCV004216653 likely pathogenic Bardet-Biedl syndrome 14 2023-04-26 criteria provided, single submitter clinical testing

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