ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.751A>G (p.Ile251Val) (rs372098364)

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
Baylor Genetics RCV000191148 SCV000245557 likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 2 2014-04-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with a pathogenic variant [D121fs] in a 39-year-old male with sideroblastic or congenital dyserythropoietic anemia, dyserythropoietic bone marrow with macrocytic anemia, angioid streaks on retina, possible pseudoxanthoma elasticum, fatigue, chronic joint pain, sister with macrocytic anemia and similar bone marrow phenotype [not tested]. Variant likely pathogenic in recessive state; heterozygotes would be carriers.

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.