Submissions for variant NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)

gnomAD frequency: 0.31278  dbSNP: rs6647

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151834	SCV000200307	benign	not specified	2013-06-13	criteria provided, single submitter	clinical testing	Benign based on MAF. See note for OMIM entry (which is responsible for the "wit h pathogenic allele" association in dbSNP)
PreventionGenetics, part of Exact Sciences	RCV000151834	SCV000303523	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000151834	SCV000331480	benign	not specified	2015-10-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000406073	SCV000389651	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	RCV000406073	SCV001725690	benign	Alpha-1-antitrypsin deficiency	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362589	SCV002664239	benign	Inborn genetic diseases	2014-09-30	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	RCV000151834	SCV004030162	likely benign	not specified	2023-07-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001701482	SCV005293372	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000019553	SCV000039850	benign	PI M1-ALA213	2016-07-15	no assertion criteria provided	literature only
OMIM	RCV000019554	SCV000039851	benign	PI, M1A	2016-07-15	no assertion criteria provided	literature only
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital	RCV000406073	SCV000608324	benign	Alpha-1-antitrypsin deficiency	2014-12-08	no assertion criteria provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000151834	SCV001741615	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701482	SCV001929622	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000151834	SCV001970518	benign	not specified		no assertion criteria provided	clinical testing