ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.20_21del (p.Ser7fs)

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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 RCV003085098 SCV003484781 pathogenic Mosaic variegated aneuploidy syndrome 2 2022-09-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CEP57-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser7Cysfs*13) in the CEP57 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP57 are known to be pathogenic (PMID: 21552266, 24259107).

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