ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)

gnomAD frequency: 0.00001  dbSNP: rs372436901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145255 SCV000192315 pathogenic Wilson disease 2013-02-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590476 SCV000694409 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.1969A>C (p.Ser657Arg) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 3/118565 control chromosomes at a frequency of 0.0000253, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006). This variant has been reported in three unrelated patients with Wilson disease (Davies_2008). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic without evidence for independent review. Taken together, this variant is classified as VUS-possibly pathogenic.
Genome-Nilou Lab RCV000145255 SCV001977176 uncertain significance Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000145255 SCV001463841 uncertain significance Wilson disease 2020-09-16 no assertion criteria provided clinical testing

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