ClinVar Miner

Submissions for variant NM_020117.11(LARS1):c.242G>T (p.Gly81Val)

dbSNP: rs1561495759
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 RCV000680030 SCV000807469 uncertain significance Infantile liver failure syndrome 1 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with another missense variant in a 2-year-old female with IUGR, motor delays, hypotonia, dysmorphisms, short stature, failure to thrive, atrial septal defect, hepatomegaly, anemia, severe hypoglycemia with illness, elevated lactate, seizure

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.