ClinVar Miner

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

gnomAD frequency: 0.11804  dbSNP: rs709932
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Total submissions: 13
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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: 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.
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

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