Submissions for variant NM_022437.3(ABCG8):c.1293C>A (p.Ile431=)

dbSNP: rs202176869

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000730596	SCV000858344	uncertain significance	not provided	2017-11-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003279037	SCV004004464	likely benign	Cardiovascular phenotype	2023-06-01	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000730596	SCV005812138	likely benign	not provided	2024-05-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003953315	SCV004768511	likely benign	ABCG8-related disorder	2020-02-21	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).