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

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145609	SCV000192706	pathogenic	Primary autosomal recessive microcephaly 9	2014-07-28	criteria provided, single submitter	clinical testing
Courtagen Diagnostics Laboratory,Courtagen Life Sciences	RCV000145609	SCV000236533	pathogenic	Primary autosomal recessive microcephaly 9	2014-01-28	criteria provided, single submitter	clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center	RCV000490391	SCV000267247	pathogenic	Seckel syndrome 5	2016-03-18	criteria provided, single submitter	reference population
GeneDx	RCV000286958	SCV000329695	pathogenic	not provided	2020-07-14	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30833958, 31980526, 25525159, 21131973, 27219052)
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.
Fulgent Genetics,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,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
EGL Genetic Diagnostics, Eurofins Clinical 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