ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter)

gnomAD frequency: 0.00001  dbSNP: rs1399711421
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331873 SCV001524017 pathogenic Mosaic variegated aneuploidy syndrome 2 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001331873 SCV001587009 pathogenic Mosaic variegated aneuploidy syndrome 2 2020-05-25 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). 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.Arg339*) in the CEP57 gene. It is expected to result in an absent or disrupted protein product.

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