Submissions for variant NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His)

gnomAD frequency: 0.11804  dbSNP: rs709932

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155576	SCV000205278	benign	not specified	2015-08-06	criteria provided, single submitter	clinical testing	p.Arg125His in exon 4 of SERPINA1: This variant is not expected to have clinical significance because it has been identified in 27% (4488/16512) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs709932).
PreventionGenetics, part of Exact Sciences	RCV000155576	SCV000303520	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000155576	SCV000345157	benign	not specified	2016-08-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310904	SCV000389655	benign	Alpha-1-antitrypsin deficiency	2018-03-06	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	RCV000310904	SCV001729056	benign	Alpha-1-antitrypsin deficiency	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001636605	SCV001849744	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22426792, 27153395, 2339709, 20981092, 14551891, 2901226)
Ambry Genetics	RCV002345248	SCV002622158	benign	Inborn genetic diseases	2017-08-02	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.
Fulgent Genetics, Fulgent Genetics	RCV000310904	SCV002808178	benign	Alpha-1-antitrypsin deficiency	2022-01-27	criteria provided, single submitter	clinical testing
OMIM	RCV000019557	SCV000039854	other	PI M2	2016-07-15	no assertion criteria provided	literature only
OMIM	RCV000019559	SCV000039856	other	PI M4	2016-07-15	no assertion criteria provided	literature only
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital	RCV000310904	SCV000608314	benign	Alpha-1-antitrypsin deficiency	2014-12-08	no assertion criteria provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000310904	SCV000733414	benign	Alpha-1-antitrypsin deficiency		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000155576	SCV001974857	benign	not specified		no assertion criteria provided	clinical testing