ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1167_1168dup (p.Phe390fs) (rs1588222870)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reproductive Health Research and Development,BGI Genomics RCV000991168 SCV001142400 pathogenic Walker-Warburg congenital muscular dystrophy 2020-01-06 no assertion criteria provided curation NM_001079802.1:c.1167_1168dup in the FKTN gene has an allele frequency of 0.008 in Ashkenazi Jewish subpopulation in the gnomAD database. This variant has been detected in a patient affected with limb girdle muscular dystrophy, in trans with mutation c.1363delG (PMID: 17044012). Godfrey et al. reported mutiple compound heterozygous in patients with SteroidResponsive Limb Girdle Muscular Dystrophy (PMID: 17044012). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PVS1; PM3_Strong; PP4.

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.