ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.880del (p.Leu294fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003529574 SCV004370101 pathogenic Joubert syndrome 15 2023-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu294Tyrfs*14) in the CEP41 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP41 are known to be pathogenic (PMID: 22246503). This variant is present in population databases (rs782180322, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CEP41-related conditions. For these reasons, this variant has been classified as Pathogenic.

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