ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) (rs765885747)

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
Counsyl RCV000665088 SCV000789150 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000760366 SCV000890228 likely pathogenic not provided 2018-08-15 criteria provided, single submitter clinical testing The E310X variant was initially reported in an individual with limb-girdle muscular dystrophy who harbored as second pathogenic FKRP variant (Poppe et al., 2003). This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The E310X variant is predicted to cause loss of normal protein function through protein truncation, as the last 186 amino acids are lost.
Invitae RCV001055645 SCV001220045 pathogenic Walker-Warburg congenital muscular dystrophy 2019-12-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FKRP gene (p.Glu310*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 186 amino acids of the FKRP protein. This variant is present in population databases (rs765885747, ExAC 0.01%). This variant has been observed in individuals affected with limb-girdle muscular dystrophy (PMID: 12707425, 15580560). ClinVar contains an entry for this variant (Variation ID: 550361). This variant has been reported to affect FKRP protein function (PMID: 23591631). For these reasons, this variant has been classified as Pathogenic.

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.