ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs) (rs1555525115)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658333 SCV000780105 pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing The c.6968_6975delCCCCGAAG pathogenic variant in the ANKRD11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.6968_6975delCCCCGAAG variant causes a frameshift starting with codon Alanine 2323, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 206 of the new reading frame, denoted p.Ala2323GlyfsX206. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.6968_6975delCCCCGAAG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.6968_6975delCCCCGAAG as a pathogenic variant.
Invitae RCV000691327 SCV000819103 pathogenic KBG syndrome 2018-04-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala2323Glyfs*206) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with ANKRD11-related disease. Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25413698). For these reasons, this variant has been classified as Pathogenic.
Institute for Genomic Statistics and Bioinformatics,University Hospital Bonn RCV000691327 SCV000999362 pathogenic KBG syndrome 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.