ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.846T>C (p.Tyr282=)

dbSNP: rs775590763
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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 RCV001211713 SCV001383266 uncertain significance Mosaic variegated aneuploidy syndrome 2 2020-02-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CEP57-related conditions. This variant is present in population databases (rs775590763, ExAC 0.002%). This sequence change affects codon 282 of the CEP57 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CEP57 protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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