ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.653A>G (p.His218Arg)

dbSNP: rs527896814
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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 RCV001891831 SCV002137689 uncertain significance Joubert syndrome 15 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 218 of the CEP41 protein (p.His218Arg). This variant is present in population databases (rs527896814, gnomAD 0.06%). 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: 1378816). 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. 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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