ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) (rs139289704)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000267893 SCV000337379 likely benign not specified 2015-11-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000267893 SCV000918595 likely benign not specified 2017-12-15 criteria provided, single submitter clinical testing Variant summary: The c.1426G>A (p.Ala476Thr) in ATP7B gene is a missense variant involves a non-conserved nucleotide and 3/4 in silico tools used predict benign outcome. The variant is located outside of any known functional domain or repeat, however no functional studies confirming an effect of this change on the protein function were published at the time of evaluation. The variant is present in the control population dataset of gnomAD (0.00048; 133/277032 chrs tested), predominantly in individuals of East Asian descent (0.0069; 131/18868 chrs tested). The frequency of the variant in the East Asian subpopulation exceeds the maximal expected allele frequency for a disease causing allele in ATP7B gene (0.0054), suggesting that this variant may represent a rare ethnic polymorphism. The variant has been reported in at least one affected individual as well as in healthy controls, and is cited as Likely Benign by a reputable database/clinical laboratory. Taken together, the variant was classified as likely benign, until new information becomes available.
Invitae RCV000631245 SCV000752269 likely benign Wilson disease 2018-01-23 criteria provided, single submitter clinical testing

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