ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) (rs535544133)

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
Genetic Services Laboratory, University of Chicago RCV000195032 SCV000248585 uncertain significance not specified 2014-07-08 criteria provided, single submitter clinical testing
Invitae RCV000556653 SCV000649891 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2017-06-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 709 of the POMT1 protein (p.Ala709Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs535544133, ExAC 0.06%). This variant has not been reported in the literature in individuals with a POMT1-related disease. ClinVar contains an entry for this variant (Variation ID: 211945). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on POMT1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764808 SCV000895953 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2018-10-31 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.