Submissions for variant NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)

gnomAD frequency: 0.00282  dbSNP: rs56204478

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000384239	SCV000335704	uncertain significance	not provided	2018-07-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094624	SCV000430492	likely benign	Sitosterolemia 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000852225	SCV000899947	uncertain significance	Thrombocytopenia	2019-02-01	criteria provided, single submitter	research
Invitae	RCV003611507	SCV001121542	likely benign	Sitosterolemia	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000384239	SCV001152244	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	ABCG5: BP4, BS2
GeneDx	RCV000384239	SCV001829356	benign	not provided	2021-04-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32088153, 24503134)
Ambry Genetics	RCV002418109	SCV002678829	benign	Cardiovascular phenotype	2020-08-25	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences	RCV003977758	SCV004799350	likely benign	ABCG5-related condition	2019-11-11	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV001699095	SCV001923913	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699095	SCV001930390	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000384239	SCV001974998	likely benign	not provided		no assertion criteria provided	clinical testing