ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) (rs709932)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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,PreventionGenetics RCV000155576 SCV000303520 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155576 SCV000345157 benign not specified 2016-08-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.
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

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