ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3104-5T>G

gnomAD frequency: 0.00001  dbSNP: rs1302558061
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824247 SCV000965137 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-08-12 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the CEP290 gene. It does not directly change the encoded amino acid sequence of the CEP290 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of CEP290 related disease (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 665874). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005004455 SCV005632375 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-06-04 criteria provided, single submitter clinical testing

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