ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)

gnomAD frequency: 0.21786  dbSNP: rs1303
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155574 SCV000205276 benign not specified 2013-06-13 criteria provided, single submitter clinical testing Benign based on MAF in ESP (10.71% in AA, 25.84% in EA)
PreventionGenetics, part of Exact Sciences RCV000155574 SCV000303519 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380179 SCV000389645 benign Alpha-1-antitrypsin deficiency 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000380179 SCV001729055 benign Alpha-1-antitrypsin deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001650837 SCV001863105 benign not provided 2020-08-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32427833)
Ambry Genetics RCV002345249 SCV002653503 benign Inborn genetic diseases 2016-06-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000155574 SCV003928923 likely benign not specified 2023-04-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650837 SCV005291193 benign not provided criteria provided, single submitter not provided
OMIM RCV000019558 SCV000039855 other PI M3 2016-07-15 no assertion criteria provided literature only
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital RCV000380179 SCV000608301 benign Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000155574 SCV001742850 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000155574 SCV001976277 benign not specified 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.