ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) (rs779494870)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824312 SCV000965205 pathogenic Wilson disease 2019-07-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 1341 of the ATP7B protein (p.Gly1341Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs779494870, ExAC 0.004%). This variant has been observed as homozygous or in combination with another ATP7B rare variant in individuals affected with Wilson's disease (PMID: 21610751, 21682854, 16283883, 22484412). It has also been reported in other Wilson's disease individuals, however the second allele was unknown (PMID: 9671269, 17949296, 22735241, 15967699). 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"). This variant disrupts the p.Gly1341 amino acid residue in ATP7B. Other variant(s) that disrupt this residue have been observed in individuals with ATP7B-related conditions (PMID: 19937698, 17264425, 16088907, 21682854, 14639035), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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