Submissions for variant NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln)

gnomAD frequency: 0.00075  dbSNP: rs150499790

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175188	SCV000226630	uncertain significance	not provided	2018-09-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000175188	SCV002538751	uncertain significance	not provided	2022-06-24	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV000175188	SCV003276062	likely benign	not provided	2025-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002516664	SCV003617590	likely benign	Inborn genetic diseases	2022-11-30	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	RCV000175188	SCV004143169	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	ATP8B1: BP4
PreventionGenetics, part of Exact Sciences	RCV004552969	SCV004737806	likely benign	ATP8B1-related disorder	2022-10-06	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).