ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) (rs119463991)

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
Invitae RCV001067436 SCV001232499 pathogenic Walker-Warburg congenital muscular dystrophy 2020-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln116*) in the FKTN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of muscular dystrophy-dystroglycanopathy (PMID: 25814170, 14627679). ClinVar contains an entry for this variant (Variation ID: 3206). Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003360 SCV000023518 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 2003-11-01 no assertion criteria provided literature only

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.