ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4318C>T (p.Arg1440Trp)

gnomAD frequency: 0.00005  dbSNP: rs543334965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814713 SCV000955134 uncertain significance Wilson disease 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1440 of the ATP7B protein (p.Arg1440Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs543334965, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002332682 SCV002627655 uncertain significance Inborn genetic diseases 2021-09-09 criteria provided, single submitter clinical testing The p.R1440W variant (also known as c.4318C>T), located in coding exon 21 of the ATP7B gene, results from a C to T substitution at nucleotide position 4318. The arginine at codon 1440 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000814713 SCV002086781 uncertain significance Wilson disease 2020-08-17 no assertion criteria provided clinical testing

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