ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.1294A>G (p.Lys432Glu)

dbSNP: rs550796220
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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 RCV001051083 SCV001215216 uncertain significance Mosaic variegated aneuploidy syndrome 2 2019-04-10 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 432 of the CEP57 protein (p.Lys432Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs550796220, ExAC 0.006%). This variant has not been reported in the literature in individuals with CEP57-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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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