ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) (rs751078884)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673544 SCV000798757 likely pathogenic Wilson disease 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV000673544 SCV000935825 uncertain significance Wilson disease 2018-10-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1000 of the ATP7B protein (p.Gly1000Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs751078884, ExAC 0.01%). This variant has been observed in individuals affected with Wilson disease (PMID: 16088907, 18728530). However the second variants were not reported. Experimental studies have shown that this missense change disrupts ATP7B protein function (PMID: 20333758). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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