ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)

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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 RCV003466697 SCV004216572 pathogenic Bardet-Biedl syndrome 14 2023-08-02 criteria provided, single submitter clinical testing
Invitae RCV003779152 SCV004573325 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu715*) 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 present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis, Meckel syndrome (PMID: 27375279, 31840411, 31964843, 35314707). For these reasons, this variant has been classified as Pathogenic.

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