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

gnomAD frequency: 0.21786  dbSNP: rs1303

Total submissions: 11

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.
Invitae	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: 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
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