ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1248C>G (p.His416Gln) (rs1566649375)

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
Broad Institute Rare Disease Group,Broad Institute RCV000785939 SCV000924519 uncertain significance Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 2018-06-15 criteria provided, single submitter research The homozygous p.His416Gln variant was identified by our study in one individual with muscular dystrophy-dystroglycanopathy. This variant was absent from large population studies. The Histidine (His) at position 416 is highly conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not be tolerated. Computational prediction tools suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain.

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.