ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)

gnomAD frequency: 0.00002  dbSNP: rs139909606
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232057 SCV001404602 uncertain significance Joubert syndrome 15 2021-02-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CEP41 gene (p.Trp372*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acids of the CEP41 protein. This variant is present in population databases (rs139909606, ExAC 0.01%). This variant has not been reported in the literature in individuals with CEP41-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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