Submissions for variant NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)

gnomAD frequency: 0.00123  dbSNP: rs139677898

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000384329	SCV000430539	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.
Eurofins Ntd Llc (ga)	RCV000592118	SCV000704049	uncertain significance	not provided	2018-02-27	criteria provided, single submitter	clinical testing
Invitae	RCV000592118	SCV001027732	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000592118	SCV002028781	likely benign	not provided	2021-05-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003372689	SCV004095957	likely benign	Cardiovascular phenotype	2023-07-12	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000592118	SCV001978425	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001729552	SCV001978783	benign	not specified		no assertion criteria provided	clinical testing