ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.1076-2A>T

dbSNP: rs1555332361
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550306 SCV000644984 pathogenic Holoprosencephaly 5 2016-09-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the ZIC2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in an individual with a ZIC2-related disease.  However, a sequence change at an adjacent nucleotide that affects the same intron 1 acceptor splice site (c.1076-1G>A) has been reported in three individuals affected with holoprosencephaly (PMID: 19177455). Family studies have indicated that this variant was not present in the parents of an individual with holoprosencephaly, which suggests that it was de novo in that affected individual. For these reasons, this variant has been classified as Pathogenic.

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.