ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)

dbSNP: rs2033536147
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266209 SCV001444381 likely pathogenic Inborn genetic diseases 2018-08-27 criteria provided, single submitter clinical testing
Robert's Program, Boston Children's Hospital RCV001788440 SCV002030079 pathogenic Sudden unexplained death in childhood 2021-10-01 criteria provided, single submitter research We classify this variant as pathogenic using the following ACMG/AMP criteria: PVS1, PS2, PM2
GeneDx RCV001788439 SCV002030970 pathogenic not provided 2021-12-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32258089, 31191201)
3billion RCV002283537 SCV002573011 pathogenic KBG syndrome 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.67; 3Cnet: 0.96). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000985348). The variant has been previously reported as de novo in a similarly affected individual (PMID: 31191201). A different missense change at the same codon (p.Arg2512Gln) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000932137). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002283537 SCV002583704 likely pathogenic KBG syndrome 2022-09-20 criteria provided, single submitter clinical testing PS4_Supporting, PM2, PM5_Supporting, PM6, PP3
Revvity Omics, Revvity RCV002283537 SCV003817396 pathogenic KBG syndrome 2023-02-07 criteria provided, single submitter clinical testing
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV002283537 SCV003932853 likely pathogenic KBG syndrome 2019-07-15 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.