ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4295C>T (p.Ser1432Phe)

gnomAD frequency: 0.00001  dbSNP: rs375692175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001279619 SCV004807066 uncertain significance Wilson disease 2024-03-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001279619 SCV004844514 uncertain significance Wilson disease 2024-07-29 criteria provided, single submitter clinical testing This missense variant replaces serine with phenylalanine at codon 1432 of the ATP7B protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with Wilson disease (PMID: 26799313). This variant has been identified in 3/249508 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001279619 SCV001466727 uncertain significance Wilson disease 2020-04-28 no assertion criteria provided clinical testing

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