ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.5882C>G (p.Ala1961Gly)

dbSNP: rs1036530132
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001892725 SCV002154717 uncertain significance not provided 2021-09-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CEP250-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glycine at codon 1961 of the CEP250 protein (p.Ala1961Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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