ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)

gnomAD frequency: 0.00041  dbSNP: rs199875471
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001280012 SCV001609331 likely benign Wilson disease 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV002282508 SCV002571583 uncertain significance not provided 2023-04-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32579932)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001280012 SCV004564415 uncertain significance Wilson disease 2023-03-06 criteria provided, single submitter clinical testing The ATP7B c.1687G>A; p.Asp563Asn variant (rs199875471), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 991746). This variant is found in the African population with an allele frequency of 0.17% (40/24,200 alleles) in the Genome Aggregation Database. The aspartate at codon 563 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.361). Due to limited information, the clinical significance of the p.Asp563Asn variant is uncertain at this time.
Natera, Inc. RCV001280012 SCV001467158 uncertain significance Wilson disease 2020-04-15 no assertion criteria provided clinical testing

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