ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.621+8C>T

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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 RCV003063545 SCV003457715 uncertain significance Mosaic variegated aneuploidy syndrome 2 2022-01-06 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 (no rsID available, gnomAD 0.01%). This sequence change falls in intron 5 of the CEP57 gene. It does not directly change the encoded amino acid sequence of the CEP57 protein.

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