Submissions for variant NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)

gnomAD frequency: 0.00036  dbSNP: rs146046068

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000730444	SCV000858180	uncertain significance	not provided	2017-11-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000730444	SCV001119541	likely benign	not provided	2024-12-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001816799	SCV002068109	uncertain significance	not specified	2021-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002388364	SCV002697028	likely benign	Cardiovascular phenotype	2019-09-02	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	RCV001816799	SCV004029680	likely benign	not specified	2023-07-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003953313	SCV004773348	likely benign	ABCG8-related disorder	2021-12-14	no assertion criteria provided	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).