ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.241C>T (p.Arg81Ter)

dbSNP: rs387906977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000023670 SCV001218715 pathogenic Mosaic variegated aneuploidy syndrome 2 2019-05-21 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 been observed in an individual affected with mosaic variegated aneuploidy syndrome (PMID: 21552266). ClinVar contains an entry for this variant (Variation ID: 30692). This variant is present in population databases (rs387906977, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Arg81*) in the CEP57 gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000023670 SCV000044961 pathogenic Mosaic variegated aneuploidy syndrome 2 2011-06-01 no assertion criteria provided literature only

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