ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.991A>G (p.Ile331Val)

gnomAD frequency: 0.02330  dbSNP: rs3757370
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118128 SCV000152472 benign not specified 2013-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000118128 SCV000171309 benign not specified 2014-01-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000118128 SCV000313477 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000399916 SCV000465739 benign Pontocerebellar hypoplasia type 6 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000676830 SCV001719736 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000118128 SCV002050997 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000676830 SCV000802640 likely benign not provided 2016-02-23 no assertion criteria provided clinical testing
Natera, Inc. RCV000399916 SCV001455539 benign Pontocerebellar hypoplasia type 6 2020-09-16 no assertion criteria provided 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.