ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.7064A>C (p.Glu2355Ala)

dbSNP: rs1455011426
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001997906 SCV002249991 uncertain significance not provided 2021-10-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with alanine at codon 2355 of the CEP250 protein (p.Glu2355Ala). The glutamic acid residue is weakly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant has not been reported in the literature in individuals affected with CEP250-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available").

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