ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)

gnomAD frequency: 0.00001  dbSNP: rs1554416667
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001320724 SCV001511521 uncertain significance Joubert syndrome 15 2022-02-24 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1021035). This variant has not been reported in the literature in individuals affected with CEP41-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 242 of the CEP41 protein (p.Arg242Cys).

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