ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003460391 SCV004214826 likely pathogenic Bardet-Biedl syndrome 14 2023-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779151 SCV004610545 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys347*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. For these reasons, this variant has been classified as Pathogenic.

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