ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.1174G>A (p.Glu392Lys)

gnomAD frequency: 0.00001  dbSNP: rs747350287
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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 RCV001953248 SCV002227154 uncertain significance Mosaic variegated aneuploidy syndrome 2 2021-07-16 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CEP57-related conditions. This variant is present in population databases (rs747350287, ExAC 0.001%). This sequence change replaces glutamic acid with lysine at codon 392 of the CEP57 protein (p.Glu392Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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