ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.2669A>G (p.Lys890Arg)

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
Baylor Genetics RCV003148387 SCV003836114 uncertain significance Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 2021-12-26 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003148387 SCV005042701 uncertain significance Intellectual disability-hypotonia-spasticity-sleep disorder syndrome criteria provided, single submitter clinical testing The missense c.2669A>Gp.Lys890Arg variant in ANK3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser118Leu variant has been reported with allele frequency of 0.009% in gnomAD Exomes and is novel not in any individuals in 1000 Genomes database. This variant has not been reported to the ClinVar database. The amino acid change p.Lys890Arg in ANK3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Lys at position 890 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance VUS.

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.