ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.676C>T (p.Arg226Cys)

gnomAD frequency: 0.00005  dbSNP: rs144903440
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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 RCV001367395 SCV001563743 uncertain significance Mosaic variegated aneuploidy syndrome 2 2020-07-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 226 of the CEP57 protein (p.Arg226Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs144903440, ExAC 0.003%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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