ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.6515A>G (p.Lys2172Arg)

gnomAD frequency: 0.00001  dbSNP: rs781529518
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219561 SCV001391506 uncertain significance not provided 2020-08-10 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 2172 of the CEP250 protein (p.Lys2172Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. 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 CEP250-related conditions. This variant is present in population databases (rs781529518, ExAC 0.005%).

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