Submissions for variant NM_022437.3(ABCG8):c.1941C>G (p.Val647=)

gnomAD frequency: 0.00094  dbSNP: rs147991100

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000342751	SCV000343369	uncertain significance	not provided	2018-08-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000403108	SCV000430542	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000342751	SCV001022399	likely benign	not provided	2024-01-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411170	SCV002723950	likely benign	Cardiovascular phenotype	2021-07-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001699284	SCV003928563	likely benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699284	SCV001925059	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000342751	SCV001932095	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000342751	SCV001969935	likely benign	not provided		no assertion criteria provided	clinical testing