ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg)

gnomAD frequency: 0.00025  dbSNP: rs145173864
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589895 SCV000694397 uncertain significance not provided 2017-08-23 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.1291T>C (p.Cys431Arg) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 23/120188 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.001549 (15/9684). This frequency does not exceed the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
Invitae RCV001459906 SCV001663762 likely benign Wilson disease 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001459906 SCV001977184 uncertain significance Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000589895 SCV004012389 uncertain significance not provided 2023-07-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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