Submissions for variant NM_000053.4(ATP7B):c.1278C>T (p.Val426=)

gnomAD frequency: 0.00135  dbSNP: rs143556945

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000306439	SCV000384677	uncertain significance	Wilson disease	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000610248	SCV000694396	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000873189	SCV000721248	likely benign	not provided	2021-10-05	criteria provided, single submitter	clinical testing
Invitae	RCV000306439	SCV001015143	likely benign	Wilson disease	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000873189	SCV001150666	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	ATP7B: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000306439	SCV001158702	likely benign	Wilson disease	2022-01-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000306439	SCV001781406	likely benign	Wilson disease	2021-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446564	SCV002683235	likely benign	Inborn genetic diseases	2022-05-24	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV000306439	SCV004362501	likely benign	Wilson disease	2022-09-16	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000306439	SCV000733363	likely benign	Wilson disease		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000306439	SCV001456190	likely benign	Wilson disease	2020-04-15	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000873189	SCV001809726	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000610248	SCV001919142	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000873189	SCV001928139	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000873189	SCV001971825	likely benign	not provided		no assertion criteria provided	clinical testing