Submissions for variant NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=)

gnomAD frequency: 0.01110  dbSNP: rs59120265

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248534	SCV000301716	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000248534	SCV000526107	benign	not specified	2016-05-25	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000527158	SCV000626854	benign	Wilson disease	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000527158	SCV001267751	benign	Wilson disease	2018-08-30	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000527158	SCV001471684	benign	Wilson disease	2023-11-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450762	SCV002615482	benign	Inborn genetic diseases	2017-05-11	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Color Diagnostics, LLC DBA Color Health	RCV000527158	SCV004361968	benign	Wilson disease	2022-09-20	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000527158	SCV004845372	benign	Wilson disease	2024-02-05	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000527158	SCV001455591	benign	Wilson disease	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579943	SCV001809126	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000248534	SCV001921582	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579943	SCV001978253	likely benign	not provided		no assertion criteria provided	clinical testing