ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys)

gnomAD frequency: 0.00086  dbSNP: rs115227204
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525049 SCV000626837 likely benign Wilson disease 2024-01-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509446 SCV001716172 uncertain significance not provided 2020-12-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000525049 SCV001977167 likely benign Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000525049 SCV004565161 uncertain significance Wilson disease 2023-06-20 criteria provided, single submitter clinical testing The ATP7B c.2174G>A; p.Arg725Lys variant (rs115227204), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 456551). This variant is found in the African/African-American population with an allele frequency of 0.3% (63/24202 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.158). Due to limited information, the clinical significance of this variant is uncertain at this time.

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