ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.6470C>A (p.Ala2157Glu)

gnomAD frequency: 0.00001  dbSNP: rs1167675349
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001904007 SCV002122165 uncertain significance not provided 2021-08-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 2157 of the CEP250 protein (p.Ala2157Glu). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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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