ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)

gnomAD frequency: 0.00001  dbSNP: rs375007352
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000276921 SCV000342294 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000276921 SCV000883438 likely benign not provided 2018-06-28 criteria provided, single submitter clinical testing The ATP7B c.3786C>T; p.Val1262Val variant (rs375007352), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 288242). This variant is found in the general population with an overall allele frequency of 0.005% (13/277214 alleles) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant does not alter splicing. Based on available information, this variant is considered to be likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001082927 SCV001075734 likely benign Wilson disease 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000276921 SCV001747084 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001082927 SCV001977540 likely benign Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348016 SCV002620463 likely benign Inborn genetic diseases 2021-12-16 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.
All of Us Research Program, National Institutes of Health RCV001082927 SCV004844603 likely benign Wilson disease 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001082927 SCV001454149 uncertain significance Wilson disease 2020-01-24 no assertion criteria provided clinical testing

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