Submissions for variant NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)

gnomAD frequency: 0.00437  dbSNP: rs145756111

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000297461	SCV000430529	likely benign	Sitosterolemia 1	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000963087	SCV001110219	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000963087	SCV001782611	likely benign	not provided	2021-03-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001699466	SCV002070907	benign	not specified	2021-06-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392900	SCV002700606	benign	Cardiovascular phenotype	2020-07-08	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	RCV002488721	SCV002797495	benign	Gallbladder disease 4; Sitosterolemia 1	2021-10-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000963087	SCV002822634	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	ABCG8: BP4, BP7, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001699466	SCV004029682	benign	not specified	2023-07-18	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699466	SCV001925113	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000963087	SCV001954719	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000963087	SCV001968568	likely benign	not provided		no assertion criteria provided	clinical testing