Submissions for variant NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys)

dbSNP: rs4148217

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180363	SCV000232776	benign	not specified	2014-12-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000289049	SCV000430520	benign	Sitosterolemia 1	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515080	SCV001723071	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000289049	SCV001769087	benign	Sitosterolemia 1	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001515080	SCV001950805	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24498041, 25525159, 11893785, 24691589)
Ambry Genetics	RCV002345628	SCV002647177	benign	Cardiovascular phenotype	2018-12-03	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	RCV000180363	SCV003928569	likely benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001515080	SCV005240570	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000180363	SCV001742093	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000180363	SCV001923469	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000180363	SCV001954149	benign	not specified		no assertion criteria provided	clinical testing