ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.278A>G (p.Asp93Gly)

gnomAD frequency: 0.00001  dbSNP: rs1554417870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219060 SCV001390981 uncertain significance Joubert syndrome 15 2020-08-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 93 of the CEP41 protein (p.Asp93Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CEP41-related conditions. This variant is not present in population databases (ExAC no frequency).

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