ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) (rs148925399)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727170 SCV000706330 uncertain significance not provided 2017-02-14 criteria provided, single submitter clinical testing
GeneDx RCV000727170 SCV000619785 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing The V1130I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V1130I variant is observed in 2/8,654 (0.02%) alleles from individuals of East Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Illumina Clinical Services Laboratory,Illumina RCV000294142 SCV000431791 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347373 SCV000431792 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 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.