Submissions for variant NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)

gnomAD frequency: 0.00179  dbSNP: rs144200355

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180362	SCV000232775	uncertain significance	not provided	2018-02-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764411	SCV000895468	uncertain significance	Sitosterolemia; Gallbladder disease 4	2018-10-31	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000180362	SCV000987660	benign	not provided		criteria provided, single submitter	clinical testing
Invitae	RCV000180362	SCV001028260	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001137117	SCV001297021	uncertain significance	Sitosterolemia 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000180362	SCV001825416	likely benign	not provided	2020-09-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20854103)
Ambry Genetics	RCV002345627	SCV002653020	likely benign	Cardiovascular phenotype	2023-09-23	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	RCV000180362	SCV004042069	uncertain significance	not provided	2023-09-01	criteria provided, single submitter	clinical testing	ABCG8: PM2, BP4
Mayo Clinic Laboratories, Mayo Clinic	RCV000180362	SCV004224892	uncertain significance	not provided	2022-09-13	criteria provided, single submitter	clinical testing	BP4
PreventionGenetics, part of Exact Sciences	RCV003937636	SCV004750323	likely benign	ABCG8-related disorder	2022-02-04	criteria provided, single submitter	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).