ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220850 SCV001392862 likely pathogenic Wilson disease 2019-08-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1030 of the ATP7B protein (p.Gly1030Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another ATP7B variant in individuals affected with Wilson disease (PMID: 26799313, 19596473). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Gly1030 amino acid residue in ATP7B. Other variant(s) that disrupt this residue have been observed in individuals with ATP7B-related conditions (PMID: 23551039, 30655162), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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