ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.915_925dup (p.Leu309fs)

dbSNP: rs1166323407
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica, Instituto Nacional de Medicina Genómica RCV000656492 SCV000747726 pathogenic Mosaic variegated aneuploidy syndrome 1 2018-03-05 criteria provided, single submitter clinical testing
Centre of Medical Genetics, University of Antwerp RCV000023669 SCV001190524 pathogenic Mosaic variegated aneuploidy syndrome 2 2019-12-16 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000023669 SCV002191637 pathogenic Mosaic variegated aneuploidy syndrome 2 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu309Profs*9) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with mosaic variegated aneuploidy syndrome (PMID: 21552266, 30010053). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 30691). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023669 SCV000044960 pathogenic Mosaic variegated aneuploidy syndrome 2 2014-01-01 no assertion criteria provided literature only

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