ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) (rs182018947)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Courtagen Diagnostics Laboratory,Courtagen Life Sciences RCV000145609 SCV000236533 pathogenic Primary autosomal recessive microcephaly 9 2014-01-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000286958 SCV000863001 likely pathogenic not provided 2018-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515277 SCV000611256 pathogenic Seckel syndrome 5; Primary autosomal recessive microcephaly 9 2017-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000286958 SCV000329695 pathogenic not provided 2015-11-20 criteria provided, single submitter clinical testing The Y678X nonsense variant in the CEP152 gene has been reported previously in association with Seckel syndrome in an individual who had a second pathogenic variant on the opposite allele (Kalay et al., 2011). It was not observed with any significant frequency in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The 1000 Genomes Project reports Y678X was observed in 2/198 (1%) alleles from individuals of Kenyan background. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, Y678X is considered a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000145609 SCV000192706 pathogenic Primary autosomal recessive microcephaly 9 2014-07-28 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000145609 SCV000784549 uncertain significance Primary autosomal recessive microcephaly 9 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000490391 SCV000784550 uncertain significance Seckel syndrome 5 2018-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270590 SCV000392890 uncertain significance CEP152-Related Disorders 2018-05-14 criteria provided, single submitter clinical testing The CEP152 c.2034T>G (p.Tyr678Ter) variant is a stop-gained variant that is predicted to cause premature truncation of the protein. The p.Tyr678Ter variant has been reported in one study in which it was found in a compound heterozygous state with a second null variant in one patient with Seckel syndrome presenting with a severe phenotype (Kalay et al. 2010). The p.Tyr678Ter variant was absent from 550 controls but is reported at a frequency of 0.001761 in the African American population of the Exome Sequencing Project. Due to the potential impact of stop-gained variants and limited evidence, the p.Tyr678Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for CEP152-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000490391 SCV000045316 pathogenic Seckel syndrome 5 2011-01-01 no assertion criteria provided literature only
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490391 SCV000267247 pathogenic Seckel syndrome 5 2016-03-18 criteria provided, single submitter reference population

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