Submissions for variant NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)

gnomAD frequency: 0.21159  dbSNP: rs6720173

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094717	SCV000430469	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.
Eurofins Ntd Llc (ga)	RCV000591475	SCV000705664	benign	not specified	2017-01-24	criteria provided, single submitter	clinical testing
Mendelics	RCV000318037	SCV001135669	benign	Sitosterolemia	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000318037	SCV001601487	likely benign	Sitosterolemia	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001594969	SCV001827989	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12220438, 17827468, 20543520)
Ambry Genetics	RCV002411229	SCV002714030	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	RCV000591475	SCV003928559	likely benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001594969	SCV005263407	likely benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000591475	SCV001957577	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000591475	SCV001979033	benign	not specified		no assertion criteria provided	clinical testing