Submissions for variant NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)

gnomAD frequency: 0.00052  dbSNP: rs150716811

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000728857	SCV000856475	benign	not specified	2017-08-22	criteria provided, single submitter	clinical testing
Invitae	RCV000958290	SCV001105123	benign	Sitosterolemia	2024-01-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141537	SCV001301890	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	RCV001709687	SCV001937477	benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000728857	SCV002070900	benign	not specified	2019-03-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002406661	SCV002713195	likely benign	Cardiovascular phenotype	2019-09-16	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000728857	SCV004813235	likely benign	not specified	2024-02-19	criteria provided, single submitter	clinical testing