ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.520G>C (p.Glu174Gln)

dbSNP: rs1060501986
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468184 SCV000548123 uncertain significance Mosaic variegated aneuploidy syndrome 2 2016-11-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 174 of the CEP57 protein (p.Glu174Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CEP57-related disease.

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