ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3220_3223AAAG[1] (p.Glu1075fs) (rs1064794330)

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 Miraca Genetics Laboratories, RCV000679909 SCV000807340 pathogenic KBG syndrome 2017-09-01 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in an 8-year-old female with bipolar, PDD, ADHD, failure to thrive, leg length discrepancy, spondylolisthesis, dysmorphic features. Inherited from mother with psychiatric issues.
GeneDx RCV000487274 SCV000568864 pathogenic not provided 2017-03-31 criteria provided, single submitter clinical testing The c.3224_3227delAAAG variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3224_3227delAAAG variant causes a frameshift starting with codon Glutamic Acid 1075, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 242 of the new reading frame, denoted p.Glu1075GlyfsX242. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3224_3227delAAAG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3224_3227delAAAG as a pathogenic variant.

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.