ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.1783-4A>G

gnomAD frequency: 0.00001  dbSNP: rs755543636
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589747 SCV000697729 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing Variant summary: The ANK2 c.1783-4A>G variant involves the alteration of a non-conserved intronic nucleotide that 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts alterations to ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/121216 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic ANK2 variant (0.00001). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
GeneDx RCV000605802 SCV000730987 likely benign not specified 2018-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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.