ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.822G>T (p.Arg274=)

gnomAD frequency: 0.00005  dbSNP: rs997235832
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
Invitae RCV000534377 SCV000630823 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-31 criteria provided, single submitter clinical testing This sequence change affects codon 274 of the FKTN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FKTN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002431565 SCV002681833 likely benign Cardiovascular phenotype 2020-01-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV000534377 SCV002079602 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-02-17 no assertion criteria provided 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.