Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145609 | SCV000192706 | pathogenic | Primary autosomal recessive microcephaly 9 | 2014-07-28 | criteria provided, single submitter | clinical testing | |
Courtagen Diagnostics Laboratory, |
RCV000145609 | SCV000236533 | pathogenic | Primary autosomal recessive microcephaly 9 | 2014-01-28 | criteria provided, single submitter | clinical testing | |
Soonchunhyang University Bucheon Hospital, |
RCV000490391 | SCV000267247 | pathogenic | Seckel syndrome 5 | 2016-03-18 | criteria provided, single submitter | reference population | |
Gene |
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. |
Illumina Clinical Services Laboratory, |
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. |
Fulgent Genetics, |
RCV000515277 | SCV000611256 | pathogenic | Seckel syndrome 5; Primary autosomal recessive microcephaly 9 | 2017-05-18 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000145609 | SCV000784549 | uncertain significance | Primary autosomal recessive microcephaly 9 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000490391 | SCV000784550 | uncertain significance | Seckel syndrome 5 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000286958 | SCV000863001 | likely pathogenic | not provided | 2018-08-15 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000490391 | SCV000045316 | pathogenic | Seckel syndrome 5 | 2011-01-01 | no assertion criteria provided | literature only |