ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.1051C>A (p.Pro351Thr)

gnomAD frequency: 0.00001  dbSNP: rs1227528568
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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 RCV001303037 SCV001492270 uncertain significance Mosaic variegated aneuploidy syndrome 2 2021-06-19 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 351 of the CEP57 protein (p.Pro351Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). 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 tolerated, 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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