ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4691del (p.Phe1564fs)

dbSNP: rs1572994572
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 Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001004981 SCV001164524 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2018-12-03 criteria provided, single submitter research The homozygous p.Phe1564SerfsTer17 variant in DYSF was identified by our study in one individual with limb-girdle muscular dystrophy (LGMD). This variant was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at position 1564 and leads to a premature termination codon 17 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the DYSF gene is an established disease mechanism in autosomal recessive LGMD, and this is a loss of function variant. In summary, although additional studies are required to fully establish its clinical significance, the clinical significance of the p.Phe1564SerfsTer17 variant is likely pathogenic. ACMG/AMP Criteria applied: PM2, PVS1 (Richards 2015).

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.