ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.1117C>T (p.Gln373Ter)

dbSNP: rs1565334264
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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 RCV000696209 SCV000824761 pathogenic Mosaic variegated aneuploidy syndrome 2 2020-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CEP57 are known to be pathogenic (PMID: 21552266, 24259107). 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. This variant has not been reported in the literature in individuals with CEP57-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln373*) in the CEP57 gene. It is expected to result in an absent or disrupted protein product.

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