ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.195C>T (p.Asn65=)

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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 RCV003642000 SCV004523382 uncertain significance Mosaic variegated aneuploidy syndrome 2 2023-01-28 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with CEP57-related conditions. This variant is present in population databases (rs147573411, gnomAD 0.008%). This sequence change affects codon 65 of the CEP57 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CEP57 protein.

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