Submissions for variant NM_000039.3(APOA1):c.9T>C (p.Ala3=)

gnomAD frequency: 0.00006  dbSNP: rs141383703

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000327031	SCV000367391	benign	Familial visceral amyloidosis, Ostertag type	2018-01-13	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.
Illumina Laboratory Services, Illumina	RCV000360809	SCV000367392	benign	Hypoalphalipoproteinemia, primary, 1	2018-01-13	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	RCV001699299	SCV002400865	likely benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000327031	SCV002539400	benign	Familial visceral amyloidosis, Ostertag type	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259802	SCV002539401	benign	Hypoalphalipoproteinemia, primary, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259803	SCV002539402	benign	Hypoalphalipoproteinemia, primary, 2, intermediate	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379173	SCV002690128	likely benign	Cardiovascular phenotype	2022-03-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV001699299	SCV004136130	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	APOA1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001699299	SCV005218006	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001699299	SCV001923450	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699299	SCV001964923	likely benign	not provided		no assertion criteria provided	clinical testing