ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.200C>T (p.Ala67Val)

gnomAD frequency: 0.00001  dbSNP: rs782426353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001317454 SCV001508118 uncertain significance Joubert syndrome 15 2022-07-19 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 67 of the CEP41 protein (p.Ala67Val). This variant is present in population databases (rs782426353, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CEP41-related conditions. ClinVar contains an entry for this variant (Variation ID: 1018189).

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