ClinVar Miner

Submissions for variant NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) (rs11558492)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244403 SCV000312100 benign not specified 2016-03-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029140 SCV000355455 benign Rhizomelic chondrodysplasia punctata type 2 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.
GeneDx RCV000244403 SCV000516277 benign not specified 2016-03-21 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000029140 SCV000885526 benign Rhizomelic chondrodysplasia punctata type 2 2018-07-12 criteria provided, single submitter clinical testing
Mendelics RCV000029140 SCV001135587 benign Rhizomelic chondrodysplasia punctata type 2 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000029140 SCV000050590 pathogenic Rhizomelic chondrodysplasia punctata type 2 1998-05-01 no assertion criteria provided literature only
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676053 SCV000801787 benign not provided 2017-09-27 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.