Submissions for variant NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 3

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000413862	SCV000492317	likely pathogenic	not provided	2016-12-08	criteria provided, single submitter	clinical testing	A novel Y558X variant that is likely pathogenic has been identified in the ASPM gene. The Y558X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The ASPM variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y558X nonsense variant in the ASPM gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000413862	SCV001447328	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003449037	SCV004178756	likely pathogenic	Microcephaly 5, primary, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.