ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)

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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 RCV002715206 SCV002990040 uncertain significance Joubert syndrome 15 2022-08-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant is present in population databases (rs781865266, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 340 of the CEP41 protein (p.Pro340Ala).

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