Submissions for variant NM_022436.3(ABCG5):c.696C>T (p.Val232=)

gnomAD frequency: 0.00145  dbSNP: rs72796720

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000286899	SCV000336140	likely benign	not specified	2015-10-20	criteria provided, single submitter	clinical testing
Invitae	RCV000972441	SCV001120152	benign	Sitosterolemia	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001139041	SCV001299147	uncertain significance	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, 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.
GeneDx	RCV001582908	SCV001810787	likely benign	not provided	2021-04-09	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000286899	SCV002070906	likely benign	not specified	2018-11-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002365308	SCV002664398	likely benign	Cardiovascular phenotype	2020-08-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV001582908	SCV003916093	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ABCG5: BP4, BP7, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000286899	SCV004029653	likely benign	not specified	2023-07-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001582908	SCV001929669	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001582908	SCV001969585	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000286899	SCV001978880	benign	not specified		no assertion criteria provided	clinical testing