ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.312_313del (p.Tyr104_Lys105delinsTer)

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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 RCV003640709 SCV004475331 pathogenic Mosaic variegated aneuploidy syndrome 2 2023-04-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features consistent with mosaic variegated aneuploidy (PMID: 35434947). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr104*) 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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