ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.451C>T (p.Arg151Ter)

gnomAD frequency: 0.00001  dbSNP: rs771182933
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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 RCV000797548 SCV000937110 pathogenic Mosaic variegated aneuploidy syndrome 2 2022-12-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 643769). This variant has not been reported in the literature in individuals affected with CEP57-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg151*) 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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